Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2051C
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PKD1

NM_001009944.3:p.R2051C

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

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 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."