Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.Y423*
Back to variants list

PRKCSH

NM_002743.3:p.Y423*

Associated Papers

Molecular Mechanisms of Isolated Polycystic Liver Diseases.

Yu Z et al.

Frontiers in Genetics, 2022

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Mantovani V et al.

Frontiers in Genetics, 2020

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."