Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2888C
Back to variants list

PKD1

NM_001009944.3:p.R2888C

Associated Papers

Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Chuzhanova N et al.

Human Mutation, 2009

Gene conversion: mechanisms, evolution and human disease.

Chen JM et al.

Nature Reviews. Genetics, 2007

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

Inoue S et al.

Human Mutation, 2002

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."