Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2477H
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PKD1

NM_001009944.3:p.R2477H

Associated Papers

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Lu H et al.

Bmc Cancer, 2018

29506494 (PubMed )
Supplement: 12885_2018_4159_MOESM2_ESM.xlsx › Sheet1

Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease.

Fang Z et al.

Gene, 2017

Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.

Chang MY et al.

Journal of Human Genetics, 2013

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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."