Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Y2945C
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PKD1

NM_001009944.3:p.Y2945C

Associated Papers

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Mallawaarachchi AC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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
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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."