Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.L2969_F2970delFs
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PKHD1

NM_138694.4:p.L2969_F2970delFs

Associated Papers

A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.

Xu Y et al.

Gene, 2014

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

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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."