Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.F480C
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PKD2

NM_000297.4:p.F480C

Associated Papers

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.

Dedoussis GV et al.

European Journal of Clinical Investigation, 2008

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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."