Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.S808insFs
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PKD2

NM_000297.4:p.S808insFs

Associated Papers

Truncating PKHD1 and PKD2 mutations alter energy metabolism.

Chumley P et al.

American Journal of Physiology. Renal Physiology, 2019

Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Deltas CC

Human Mutation, 2001

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

Watnick T et al.

Nature Genetics, 2000

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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."