Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R3247H
Back to variants list

PKD1

NM_001009944.3:p.R3247H

Associated Papers

A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers.

Gharahkhani P et al.

Plos One, 2011

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

Afzal AR et al.

Genetic Testing, 2000

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."