Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.W507*
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PKD2

NM_000297.4:p.W507*

Associated Papers

PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.

Xu D et al.

Clinical Genetics, 2021

Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.

Nielsen ML et al.

European Journal of Medical Genetics, 2021

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

Mallawaarachchi AC et al.

European Journal of Human Genetics : Ejhg, 2016

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

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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."