{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T05:15:40Z","timestamp":1740633340452,"version":"3.38.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T00:00:00Z","timestamp":1733875200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T00:00:00Z","timestamp":1733875200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci. China Life Sci."],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1007\/s11427-024-2786-5","type":"journal-article","created":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T04:12:43Z","timestamp":1734063163000},"page":"880-883","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis"],"prefix":"10.1007","volume":"68","author":[{"given":"Wenqian","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoxiong","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaorui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kuo","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Youbang","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,11]]},"reference":[{"key":"2786_CR1","doi-asserted-by":"crossref","first-page":"D789","DOI":"10.1093\/nar\/gku1205","volume":"43","author":"JS Amberger","year":"2015","unstructured":"Amberger, J.S., Bocchini, C.A., Schiettecatte, F., Scott, A.F., and Hamosh, A. (2015). OMIM.org: online Mendelian Inheritance in Man (OMIM\u00ae), an online catalog of human genes and genetic disorders. Nucleic Acids Res 43, D789\u2013D798.","journal-title":"Nucleic Acids Res"},{"key":"2786_CR2","volume-title":"GeneReviews (R)","author":"C Bento","year":"1993","unstructured":"Bento, C., McMullin, M.F., Percy, M., and Cario, H. (1993). Primary Familial and Congenital Polycythemia. In: Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A., eds. GeneReviews (R). Seattle (WA): University of Washington."},{"key":"2786_CR3","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1002\/cncr.31986","volume":"125","author":"CB Benton","year":"2019","unstructured":"Benton, C.B., Boddu, P.C., DiNardo, C.D., Bose, P., Wang, F., Assi, R., Pemmaraju, N., Kc, D., Pierce, S., Patel, K., et al. (2019). Janus kinase 2 variants associated with the transformation of myeloproliferative neoplasms into acute myeloid leukemia. Cancer 125, 1855\u20131866.","journal-title":"Cancer"},{"key":"2786_CR4","doi-asserted-by":"crossref","first-page":"101924","DOI":"10.1016\/j.scr.2020.101924","volume":"47","author":"A D\u2019Anzi","year":"2020","unstructured":"D\u2019Anzi, A., Altieri, F., Perciballi, E., Ferrari, D., Bernardini, L., Goldoni, M., Mazzini, L., De Marchi, F., Di Pierro, A., D\u2019Alfonso, S., et al. (2020). Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene. Stem Cell Res 47, 101924.","journal-title":"Stem Cell Res"},{"key":"2786_CR5","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1182\/blood-2016-02-698951","volume":"128","author":"K Kapralova","year":"2016","unstructured":"Kapralova, K., Horvathova, M., Pecquet, C., Fialova Kucerova, J., Pospisilova, D., Leroy, E., Kralova, B., Milosevic Feenstra, J.D., Schischlik, F., Kralovics, R., et al. (2016). Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia. Blood 128, 1418\u20131423.","journal-title":"Blood"},{"key":"2786_CR6","doi-asserted-by":"crossref","first-page":"3680","DOI":"10.3390\/cancers14153680","volume":"14","author":"NY Lee","year":"2022","unstructured":"Lee, N.Y., Hum, M., Ong, P.Y., Myint, M., Ong, E., Low, K.P., Li, Z., Goh, B.C., Tay, J., Loh, K.S., et al. (2022). Germline variants associated with nasopharyngeal carcinoma predisposition identified through whole-exome sequencing. Cancers 14, 3680.","journal-title":"Cancers"},{"key":"2786_CR7","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1016\/S0030-4220(57)80027-9","volume":"10","author":"L Lund","year":"1957","unstructured":"Lund, L., and Anholm, J.M. (1957). Clinical observations on the use of meprobamate in dental procedures. Oral Surg Oral Med Oral Pathol 10, 1281\u20131286.","journal-title":"Oral Surg Oral Med Oral Pathol"},{"key":"2786_CR8","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/ejh.13632","volume":"107","author":"N Mallik","year":"2021","unstructured":"Mallik, N., Das, R., Malhotra, P., and Sharma, P. (2021). Congenital erythrocytosis. Eur J Haematol 107, 29\u201337.","journal-title":"Eur J Haematol"},{"key":"2786_CR9","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1111\/j.1751-553X.2008.01102.x","volume":"30","author":"MF McMullin","year":"2008","unstructured":"McMullin, M.F. (2008). The classification and diagnosis of erythrocytosis. Int J Lab Hematol 30, 447\u2013459.","journal-title":"Int J Lab Hematol"},{"key":"2786_CR10","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","volume":"22","author":"ER Riggs","year":"2020","unstructured":"Riggs, E.R., Andersen, E.F., Cherry, A.M., Kantarci, S., Kearney, H., Patel, A., Raca, G., Ritter, D.I., South, S. T., Thorland, E.C., et al. (2020). Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med 22, 245\u2013257.","journal-title":"Genet Med"},{"key":"2786_CR11","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1111\/ijlh.12949","volume":"41","author":"D Vo\u010danec","year":"2019","unstructured":"Vo\u010danec, D., Prijatelj, T., Debeljak, N., and Kunej, T. (2019). Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. Int J Lab Hematol 41, 162\u2013167.","journal-title":"Int J Lab Hematol"},{"key":"2786_CR12","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1039\/b903245m","volume":"8","author":"S Weidtkamp-Peters","year":"2009","unstructured":"Weidtkamp-Peters, S., Felekyan, S., Bleckmann, A., Simon, R., Becker, W., K\u00fchnemuth, R., and Seidel, C. A.M. (2009). Multiparameter fluorescence imagespectroscopy to study molecular interactions. Photochem Photobiol Sci 8, 470\u2013480.","journal-title":"Photochem Photobiol Sci"}],"container-title":["Science China Life Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11427-024-2786-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11427-024-2786-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11427-024-2786-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T08:06:56Z","timestamp":1740557216000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11427-024-2786-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,11]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["2786"],"URL":"https:\/\/doi.org\/10.1007\/s11427-024-2786-5","relation":{},"ISSN":["1674-7305","1869-1889"],"issn-type":[{"type":"print","value":"1674-7305"},{"type":"electronic","value":"1869-1889"}],"subject":[],"published":{"date-parts":[[2024,12,11]]},"assertion":[{"value":"8 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare that they have no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance and ethics"}}]}}