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| Renal ciliopathies v0.1 | PKD1 |
Eleanor Williams gene: PKD1 was added gene: PKD1 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PKD1 were set to 23624871; 20558538 Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD) |
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