Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.V1640V
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PKHD1

NM_138694.4:p.V1640V

Associated Papers

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Kidney International, 2005

PKHD1 mutations in 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."