Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S2423F
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PKD1

NM_001009944.3:p.S2423F

Associated Papers

The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).

Rossetti S et al.

Current Hypertension Reviews, 2013

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2012

Modifier genes play a significant role in the phenotypic expression of PKD1.

Fain PR et al.

Kidney International, 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."