Varaico: Literature-Extracted Genetic Variants

Gene:PARD3
Variant:p.P1254Fs
Back to variants list

PARD3

NM_001184785.2:p.P1254Fs

Associated Papers

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp AM et al.

Journal of Medical Genetics, 2005

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Human Mutation, 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."