Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
Sierks D et al.
Jhep Reports : Innovation in Hepatology, 2022
36246085 (PubMed )
Supplement: mmc1.pdf
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
Symmons O et al.
Molecular Biology and Evolution, 2008
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
Watnick TJ et al.
Human Molecular Genetics, 1997
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