Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.R281W
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PRKCSH

NM_001289104.2:p.R281W

Associated Papers

Molecular Mechanisms of Isolated Polycystic Liver Diseases.

Yu Z et al.

Frontiers in Genetics, 2022

Novel GANAB variants associated with polycystic liver disease.

van de Laarschot LFM et al.

Orphanet Journal of Rare Diseases, 2020

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Forstner AJ et al.

Translational Psychiatry, 2020

32066727 (PubMed )
Supplement: 41398_2020_732_MOESM5_ESM.xlsx › Supplementary_Table_1

[Screening of familial primary biliary cholangitis and research on low-frequency mutations by whole-exome sequencing].

Zhang S et al.

Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2018

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

Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.

Peces R et al.

World Journal of Gastroenterology, 2005

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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."