Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.R807Q
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PKD2

NM_000297.4:p.R807Q

Associated Papers

Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.

Gonzalez-Paredes FJ et al.

Gene, 2016

Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.

Neumann HP et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

Robinson C et al.

Bmc Nephrology, 2012

Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.

Neumann HP et al.

Cerebrovascular Diseases Extra, 2012

A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.

Giamarchi A et al.

The Embo Journal, 2010

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

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

Torra R et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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."