Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.Q405*
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PKD2

NM_000297.4:p.Q405*

Associated Papers

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

General mutation databases: analysis and review.

George RA et al.

Journal of Medical Genetics, 2008

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Magistroni R et al.

Journal of the American Society of Nephrology : Jasn, 2003

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

Deltas CC

Human Mutation, 2001

Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.

Wu G et al.

Molecular Genetics and Metabolism, 2000

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

Torra R et al.

Kidney International, 1999

A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.

Pei Y et al.

Journal of the American Society of Nephrology : Jasn, 1998

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

Viribay M et al.

Human Genetics, 1997

[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].

Torra R 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."