Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.C1613Y
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PKHD1

NM_138694.4:p.C1613Y

Associated Papers

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Losekoot M et al.

Human Genetics, 2005

[From gene to disease; PKHD1 and recessive polycystic kidney disease].

Peters DJ et al.

Nederlands Tijdschrift Voor Geneeskunde, 2005

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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."