Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A1447V
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PKD1

NM_001009944.3:p.A1447V

Associated Papers

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Wu SW et al.

Italian Journal of Pediatrics, 2021

34289880 (PubMed )
Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1

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

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Liu B et al.

Scientific Reports, 2015

26632257 (PubMed )
Supplement: srep17468-s1.doc
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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."