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
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort
Molecular Mechanisms of Isolated Polycystic Liver Diseases.
Yu Z et al.
Frontiers in Genetics, 2022
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Waanders E et al.
Clinical Genetics, 2010
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Li A et al.
American Journal of Human Genetics, 2003
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