Associated Papers
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Ishiko S et al.
Clinical and Experimental Nephrology, 2022
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints.
Won DG et al.
Bioinformatics (oxford, England), 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
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