Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.A1254_P1255Fs
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PKHD1

NM_138694.4:p.A1254_P1255Fs

Associated Papers

An Ashkenazi founder mutation in the PKHD1 gene.

Quint A et al.

European Journal of Medical Genetics, 2016

Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.

Cornec-Le Gall E et al.

Human Mutation, 2014

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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."