Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.Y486H
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PKHD1

NM_138694.4:p.Y486H

Associated Papers

Genetic variants associated with diseases in Afghan population.

Zadran SK et al.

Molecular Genetics & Genomic Medicine, 2021

33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

Gunay-Aygun M et al.

Molecular Genetics and Metabolism, 2010

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Human Mutation, 2004

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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."