Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A3240T
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PKD1

NM_001009944.3:p.A3240T

Associated Papers

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Obeidova L et al.

Bmc Medical Genetics, 2014

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2012

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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."