{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T21:43:38Z","timestamp":1787348618442,"version":"build-2736575974"},"reference-count":55,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1016\/j.gene.2024.148647","type":"journal-article","created":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T09:56:15Z","timestamp":1717581375000},"page":"148647","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients"],"prefix":"10.1016","volume":"926","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-4351-7380","authenticated-orcid":false,"given":"Jing","family":"Tao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8408-3880","authenticated-orcid":false,"given":"Jingyi","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaijing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Runcai","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yixiu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Ge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0005","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-57338-2","article-title":"The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56","volume":"10","author":"Almoallem","year":"2020","journal-title":"Sci. Rep."},{"issue":"5","key":"10.1016\/j.gene.2024.148647_b0010","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1080\/13816810.2017.1279184","article-title":"Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia","volume":"38","author":"Ammar","year":"2017","journal-title":"Ophthalmic Genet."},{"issue":"7571","key":"10.1016\/j.gene.2024.148647_b0015","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.gene.2024.148647_b0020","first-page":"1483","article-title":"A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation","volume":"12","author":"Ayala-Ramirez","year":"2006","journal-title":"Mol. Vis."},{"issue":"3","key":"10.1016\/j.gene.2024.148647_b0025","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.preteyeres.2009.04.002","article-title":"The spectrum of ocular phenotypes caused by mutations in the BEST1 gene","volume":"28","author":"Boon","year":"2009","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.gene.2024.148647_b0030","doi-asserted-by":"crossref","DOI":"10.1155\/2018\/2735465","article-title":"Nanophthalmos: a review of the clinical spectrum and genetics","volume":"2018","author":"Carricondo","year":"2018","journal-title":"J. Ophthalmol."},{"issue":"4","key":"10.1016\/j.gene.2024.148647_b0035","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/gim.2014.172","article-title":"Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing","volume":"17","author":"Consugar","year":"2015","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0040","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.gene.2024.148647_b0045","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1136\/bjo.78.5.332","article-title":"Aetiology of severe visual impairment and blindness in microphthalmos","volume":"78","author":"Elder","year":"1994","journal-title":"Br. J. Ophthalmol."},{"issue":"8","key":"10.1016\/j.gene.2024.148647_b0050","doi-asserted-by":"crossref","first-page":"2904","DOI":"10.1167\/iovs.18-26275","article-title":"Detection of clinically relevant genetic variants in Chinese patients with nanophthalmos by trio-based whole-genome sequencing study","volume":"60","author":"Guo","year":"2019","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"5","key":"10.1016\/j.gene.2024.148647_b0055","doi-asserted-by":"crossref","first-page":"2710","DOI":"10.1073\/pnas.1913179117","article-title":"Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases","volume":"117","author":"Hanany","year":"2020","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0060","article-title":"Overview of specifications to the ACMG\/AMP variant interpretation guidelines","volume":"103","author":"Harrison","year":"2019","journal-title":"Curr. Protoc. Hum. Genet."},{"issue":"7809","key":"10.1016\/j.gene.2024.148647_b0065","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0070","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1006\/bbrc.2001.4551","article-title":"Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein","volume":"282","author":"Katoh","year":"2001","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0075","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1096\/fj.201902359R","article-title":"Membrane-type frizzled-related protein regulates lipidome and transcription for photoreceptor function","volume":"34","author":"Kautzmann","year":"2020","journal-title":"FASEB J."},{"issue":"5","key":"10.1016\/j.gene.2024.148647_b0080","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1016\/j.jmb.2004.05.050","article-title":"A detailed thermodynamic analysis of ras\/effector complex interfaces","volume":"340","author":"Kiel","year":"2004","journal-title":"J Mol Biol."},{"key":"10.1016\/j.gene.2024.148647_b0085","doi-asserted-by":"crossref","DOI":"10.1016\/j.compbiomed.2022.105701","article-title":"Whole-exome sequencing analysis of NSCLC reveals the pathogenic missense variants from cancer-associated genes","volume":"148","author":"Kumar","year":"2022","journal-title":"Comput. Biol. Med."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0090","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-022-19351-w","article-title":"Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration","volume":"12","author":"Kumari","year":"2022","journal-title":"Sci. Rep."},{"issue":"9","key":"10.1016\/j.gene.2024.148647_b0095","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1093\/bioinformatics\/btv769","article-title":"MAESTROweb: a web server for structure-based protein stability prediction","volume":"32","author":"Laimer","year":"2016","journal-title":"Bioinformatics"},{"issue":"4","key":"10.1016\/j.gene.2024.148647_b0100","doi-asserted-by":"crossref","first-page":"e594","DOI":"10.1111\/aos.14615","article-title":"Genotype-phenotype spectrum in isolated and syndromic nanophthalmos","volume":"99","author":"Lang","year":"2021","journal-title":"Acta Ophthalmol."},{"issue":"10","key":"10.1016\/j.gene.2024.148647_b0105","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1021\/ci200227u","article-title":"LigPlot+: multiple ligand-protein interaction diagrams for drug discovery","volume":"51","author":"Laskowski","year":"2011","journal-title":"J. Chem. Inf. Model."},{"issue":"18","key":"10.1016\/j.gene.2024.148647_b0110","doi-asserted-by":"crossref","first-page":"2811","DOI":"10.1093\/bioinformatics\/btab051","article-title":"Mutalyzer 2: next generation HGVS nomenclature checker","volume":"37","author":"Lefter","year":"2021","journal-title":"Bioinformatics"},{"key":"10.1016\/j.gene.2024.148647_b0115","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.2147\/OPTH.S27189","article-title":"Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation","volume":"5","author":"Llorente-Gonzalez","year":"2011","journal-title":"Clin. Ophthalmol."},{"issue":"3","key":"10.1016\/j.gene.2024.148647_b0120","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1111\/aos.13994","article-title":"Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients","volume":"97","author":"Luo","year":"2019","journal-title":"Acta Ophthalmol."},{"issue":"11","key":"10.1016\/j.gene.2024.148647_b0125","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1038\/s10038-018-0504-1","article-title":"Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and\/or anophthalmia by next-generation sequencing","volume":"63","author":"Matias-Perez","year":"2018","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2024.148647_b0130","first-page":"540","article-title":"A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy","volume":"16","author":"Mukhopadhyay","year":"2010","journal-title":"Mol. Vis."},{"issue":"3","key":"10.1016\/j.gene.2024.148647_b0135","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1159\/000527260","article-title":"MFRP-associated retinopathy and nanophthalmos in two Irish Probands: a case report","volume":"13","author":"O'Connell","year":"2022","journal-title":"Case Rep. Ophthalmol."},{"issue":"5","key":"10.1016\/j.gene.2024.148647_b0140","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1080\/13816810.2023.2208220","article-title":"Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients","volume":"44","author":"Ota","year":"2023","journal-title":"Ophthalmic Genet."},{"issue":"6","key":"10.1016\/j.gene.2024.148647_b0145","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1111\/cge.13239","article-title":"Genetic investigation of 93 families with microphthalmia or posterior microphthalmos","volume":"93","author":"Patel","year":"2018","journal-title":"Clin. Genet."},{"issue":"8\u20139","key":"10.1016\/j.gene.2024.148647_b0150","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1007\/s00439-019-01977-y","article-title":"Genetics of anophthalmia and microphthalmia. Part 1: non-syndromic anophthalmia\/microphthalmia","volume":"138","author":"Plaisancie","year":"2019","journal-title":"Hum. Genet."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0155","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-020-76725-8","article-title":"Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort","volume":"10","author":"Prasov","year":"2020","journal-title":"Sci. Rep."},{"issue":"5","key":"10.1016\/j.gene.2024.148647_b0160","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"6","key":"10.1016\/j.gene.2024.148647_b0165","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1002\/mgg3.329","article-title":"Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns","volume":"5","author":"Riera","year":"2017","journal-title":"Mol. Genet. Genomic Med."},{"issue":"5","key":"10.1016\/j.gene.2024.148647_b0170","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1111\/cge.13722","article-title":"The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort","volume":"97","author":"Siggs","year":"2020","journal-title":"Clin. Genet."},{"issue":"10","key":"10.1016\/j.gene.2024.148647_b0175","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1007\/s00439-020-02199-3","article-title":"The Human Gene Mutation Database (HGMD ((R))): optimizing its use in a clinical diagnostic or research setting","volume":"139","author":"Stenson","year":"2020","journal-title":"Hum. Genet."},{"issue":"7571","key":"10.1016\/j.gene.2024.148647_b0180","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nature15394","article-title":"An integrated map of structural variation in 2,504 human genomes","volume":"526","author":"Sudmant","year":"2015","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.gene.2024.148647_b0185","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1007\/s11011-023-01221-7","article-title":"Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease","volume":"38","author":"Sundarrajan","year":"2023","journal-title":"Metab. Brain Dis."},{"issue":"27","key":"10.1016\/j.gene.2024.148647_b0190","doi-asserted-by":"crossref","first-page":"9553","DOI":"10.1073\/pnas.0501451102","article-title":"Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein","volume":"102","author":"Sundin","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0195","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/13816810701651241","article-title":"Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization","volume":"29","author":"Sundin","year":"2008","journal-title":"Ophthalmic Genet."},{"issue":"4","key":"10.1016\/j.gene.2024.148647_b0200","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1007\/s43657-022-00053-2","article-title":"Three novel mutations of microphthalmos identified in two Chinese families","volume":"2","author":"Tang","year":"2022","journal-title":"Phenomics"},{"issue":"9","key":"10.1016\/j.gene.2024.148647_b0205","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1002\/jcb.30305","article-title":"Identification of potential inhibitors, conformational dynamics, and mechanistic insights into mutant Kirsten rat sarcoma virus (G13D) driven cancers","volume":"123","author":"Tayubi","year":"2022","journal-title":"J. Cell Biochem."},{"issue":"7873","key":"10.1016\/j.gene.2024.148647_b0210","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1038\/s41586-021-03828-1","article-title":"Highly accurate protein structure prediction for the human proteome","volume":"596","author":"Tunyasuvunakool","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.gene.2024.148647_b0215","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/bs.apcsb.2022.02.005","article-title":"Mutations in G6PC2 gene with increased risk for development of type 2 diabetes: understanding via computational approach","volume":"130","author":"Udhaya Kumar","year":"2022","journal-title":"Adv. Protein Chem. Struct. Biol."},{"issue":"D1","key":"10.1016\/j.gene.2024.148647_b0220","doi-asserted-by":"crossref","first-page":"D523","DOI":"10.1093\/nar\/gkac1052","article-title":"UniProt: the universal protein knowledgebase in 2023","volume":"51","author":"UniProt","year":"2023","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0225","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1080\/13816810.2022.2103835","article-title":"MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone","volume":"44","author":"Vanden Heuvel","year":"2023","journal-title":"Ophthalmic Genet."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0230","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-16275-8","article-title":"Gene therapy restores Mfrp and corrects axial eye length","volume":"7","author":"Velez","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.gene.2024.148647_b0235","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms13316","article-title":"De novo genic mutations among a Chinese autism spectrum disorder cohort","volume":"7","author":"Wang","year":"2016","journal-title":"Nat Commun."},{"issue":"11","key":"10.1016\/j.gene.2024.148647_b0240","doi-asserted-by":"crossref","DOI":"10.1002\/pro.4467","article-title":"BayeStab: predicting effects of mutations on protein stability with uncertainty quantification","volume":"31","author":"Wang","year":"2022","journal-title":"Protein Sci."},{"issue":"8","key":"10.1016\/j.gene.2024.148647_b0245","first-page":"1543","article-title":"Exome sequencing: current and future","volume":"5","author":"Warr","year":"2015","journal-title":"Perspectives"},{"issue":"3","key":"10.1016\/j.gene.2024.148647_b0250","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1111\/aos.12105","article-title":"Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds","volume":"92","author":"Wasmann","year":"2014","journal-title":"Acta Ophthalmol."},{"issue":"W1","key":"10.1016\/j.gene.2024.148647_b0255","doi-asserted-by":"crossref","first-page":"W296","DOI":"10.1093\/nar\/gky427","article-title":"SWISS-MODEL: homology modelling of protein structures and complexes","volume":"46","author":"Waterhouse","year":"2018","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"10.1016\/j.gene.2024.148647_b0260","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/OPX.0000000000000751","article-title":"Identification of MFRP mutations in Chinese families with high hyperopia","volume":"93","author":"Xu","year":"2016","journal-title":"Optom. Vis. Sci."},{"key":"10.1016\/j.gene.2024.148647_b0265","first-page":"949","article-title":"Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China","volume":"15","author":"Yu","year":"2009","journal-title":"Mol. Vis."},{"key":"10.1016\/j.gene.2024.148647_b0270","first-page":"734","article-title":"Evaluation of MYRF as a candidate gene for primary angle closure glaucoma","volume":"27","author":"Yu","year":"2021","journal-title":"Mol. Vis."},{"issue":"5","key":"10.1016\/j.gene.2024.148647_b0275","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1002\/ajmg.a.33862","article-title":"Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos","volume":"155A","author":"Zenteno","year":"2011","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111924005286?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111924005286?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T22:09:48Z","timestamp":1718402988000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111924005286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":55,"alternative-id":["S0378111924005286"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2024.148647","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2024.148647","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"148647"}}