Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.R306Q
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PKD2

NM_000297.4:p.R306Q

Associated Papers

Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2).

Grieben M et al.

Nature Structural & Molecular Biology, 2017

Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.

Gonzalez-Paredes FJ et al.

Gene, 2016

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

Stekrová J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004

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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."