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Sachatello CR, Hahn IS, Carrington CB. Juvenile gastrointestinal polyposis in a female infant: report of a case and review of the literature of a recently recognized syndrome. Surgery 75: 107-114, 1974."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Agnifili A, Verzaro R, Gola P, et al. Juvenile polyposis: case report and assessment of the neoplastic risk in 271 patients reported in the literature. Dig Surg 16: 161-166, 1999.","DOI":"10.1159\/000018711"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3. Watanabe A, Nagashima H, Motoi M, Ogawa K. Familial juvenile polyposis of the stomach. Gastroenterology 77: 148-151, 1979.","DOI":"10.1016\/S0016-5085(79)80027-X"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Hizawa K, Iida M, Yao T, Aoyagi K, Fujishima M. Juvenile polyposis of the stomach: clinicopathological features and its malignant potential. 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Eguchi H, Okazaki Y. Next-generation sequencing for genetic diagnosis of hereditary colorectal cancer and polyposis syndrome. In: Recent Advances in the Treatment of Colorectal Cancer. Ishida H, Koda K, Eds. Springer, Gateway East, 2019: 115-125.","DOI":"10.1007\/978-981-13-3050-6_10"},{"key":"9","doi-asserted-by":"publisher","unstructured":"9. Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581: 434-443, 2020.","DOI":"10.1038\/s41586-020-2308-7"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Tadaka S, Hishinuma E, Komaki S, et al. jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Res 49: D536-D544, 2021.","DOI":"10.1093\/nar\/gkaa1034"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Leman R, Gaildrat P, Le Gac G, et al. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined <i>in silico<\/i>\/<i>in vitro<\/i> studies: an international collaborative effort. Nucleic Acids Res 48: 1600-1601, 2020.","DOI":"10.1093\/nar\/gkz1212"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Richards S, Aziz N, Bale S, et al.; ACMG Laboratory Quality Assurance Committee. 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. Genet Med 17: 405-424, 2015.","DOI":"10.1038\/gim.2015.30"},{"key":"13","unstructured":"13. The National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology. Genetic\/Familial High-Risk Assessment: Colorectal Version 2. 2022."},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Baldysiak E, Benech N, Calavas L, et al. Endoscopic resection of early-stage SMAD4 juvenile polyposis does not prevent disease spreading in the stomach. Endoscopy 52: E17-E19, 2020.","DOI":"10.1055\/a-0978-6734"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Kelly S, Dwerryhouse S, Safranek P, Hardwick R. Juvenile polyposis syndrome affecting the stomach: a case report. J Med Case Rep 2: 314, 2008.","DOI":"10.1186\/1752-1947-2-314"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Soer E, de Vos Tot Nederveen Cappel WH, Ligtenberg MJ, et al. Massive gastric polyposis associated with a germline <i>SMAD4<\/i> gene mutation. Fam Cancer 14: 569-573, 2015.","DOI":"10.1007\/s10689-015-9822-z"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Saito R, Fukuda T, Fujikuni N, et al. A case of juvenile polyposis of the stomach with multiple early gastric cancers. Mol Clin Oncol 4: 851-854, 2016.","DOI":"10.3892\/mco.2016.785"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Lawless ME, Toweill DL, Jewell KD, et al. Massive gastric juvenile polyposis: a clinicopathologic study using <i>SMAD4<\/i> immunohistochemistry. Am J Clin Pathol 147: 390, 2017.","DOI":"10.1093\/ajcp\/aqx015"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Jogo T, Oki E, Fujiwara M, et al, et al. Non-familial juvenile polyposis of the stomach with gastric cancers: a case report. Surg Case Rep 4: 79, 2018.","DOI":"10.1186\/s40792-018-0488-2"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. De Leon MP, Pedroni M, Viel A, et al. Massive juvenile polyposis of the stomach in a family with <i>SMAD4<\/i> gene mutation. Fam Cancer 18: 165-172, 2019.","DOI":"10.1007\/s10689-018-0100-8"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Kanemitsu T, Yao K, Nimura S, et al. A case of early gastric cancer in a patient with gastric juvenile polyposis diagnosed by magnifying endoscopy and resected by endoscopic submucosal dissection. 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