Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.C1692Y
Back to variants list

PKHD1

NM_138694.4:p.C1692Y

Associated Papers

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

Denamur E et al.

Kidney International, 2010

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.

Michel-Calemard L et al.

Clinical Genetics, 2009

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."