Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.Q1917_G1918Splc
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PKHD1

NM_138694.4:p.Q1917_G1918Splc

Associated Papers

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease.

Gayrard N et al.

The Journal of Physiology, 2025

Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease.

Jiang L et al.

Biomed Research International, 2016

Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease.

Wen J

Clinical and Translational Science, 2011

Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat.

Masyuk TV et al.

Gastroenterology, 2003

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Ward CJ et al.

Nature Genetics, 2002

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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."