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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":"6","doi-asserted-by":"crossref","unstructured":"6. Edghill EL, Bingham C, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor-1\u03b2 and their related phenotypes. J Med Genet 43: 84-90, 2006.","DOI":"10.1136\/jmg.2005.032854"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Kotalova R, Dusatkova P, Cinek O, et al. Hepatic phenotypes of <i>HNF1B<\/i> gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. World J Gastroenterol 21: 2550-2557, 2015.","DOI":"10.3748\/wjg.v21.i8.2550"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Faguer S, Chassaing N, Bandin F, et al. The <i>HNF1B<\/i> score is a simple tool to select patients for <i>HNF1B<\/i> gene analysis. Kidney Int 86: 1007-1015, 2014.","DOI":"10.1038\/ki.2014.202"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. HNF1B-associated renal and extra-renal disease - an expanding clinical spectrum. Nat Rev Nephrol 11: 102-112, 2015.","DOI":"10.1038\/nrneph.2014.232"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Hwang DY, Dworschak GC, Kohl S, et al. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int 85: 1429-1433, 2014.","DOI":"10.1038\/ki.2013.508"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Furuta H, Furuta M, Sanke T, et al. Nonsense and missense mutations in the human hepatocyte nuclear factor-1\u03b2 gene (<i>TCF<\/i>2) and their relation to type 2 diabetes in Japanese. 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