Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.Y429*
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PKD2

NM_000297.4:p.Y429*

Associated Papers

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

Deltas CC

Human Mutation, 2001

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

Torra R et al.

American Journal of Human Genetics, 1999

[Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis].

Pérez-Oller L et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0

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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."