Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.R496P
Back to variants list

PKHD1

NM_138694.4:p.R496P

Associated Papers

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Human Mutation, 2004

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Bergmann C et al.

Journal of the American Society of Nephrology : Jasn, 2003

Autosomal recessive polycystic kidney disease (ARPKD).

Zerres K et al.

Journal of Nephrology, 0

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."