Varaico: Literature-Extracted Genetic Variants

Gene:PARD3
Variant:p.F473C
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PARD3

NM_001184785.2:p.F473C

Associated Papers

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Human Mutation, 2005

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Bergmann C et al.

Journal of the American Society of Nephrology : Jasn, 2003

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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."