Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.R3107P
Back to variants list

PKHD1

NM_138694.4:p.R3107P

Associated Papers

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp AM et al.

Journal of Medical Genetics, 2005

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Kidney International, 2005

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

Bergmann C et al.

Human Mutation, 2004

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."