Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E2494K
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PKD1

NM_001009944.3:p.E2494K

Associated Papers

Gene panel for Mendelian strokes.

Fang F et al.

Stroke and Vascular Neurology, 2020

32341005 (PubMed )
Supplement: svn-2020-000352supp003.pdf

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Wang T et al.

Molecular Genetics & Genomic Medicine, 2019

Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population.

Hirota K et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2016

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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."