Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S2788fs
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PKD1

NM_001009944.3:p.S2788fs

Associated Papers

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Yu CC et al.

Npj Genomic Medicine, 2022

35778421 (PubMed )
Supplement: 41525_2022_309_MOESM1_ESM.pdf

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Cornec-Le Gall E et al.

Journal of the American Society of Nephrology : Jasn, 2018

Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.

Cornec-Le Gall E et al.

Human Mutation, 2014

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.

Gilbert RD et al.

Pediatric Nephrology (berlin, Germany), 2013

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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."