Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.G449insFs
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PKD2

NM_000297.4:p.G449insFs

Associated Papers

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Obeidova L et al.

Bmc Medical Genetics, 2014

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

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

Stekrová J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004

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

Reiterová J et al.

Human Mutation, 2002

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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."