Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Y2753*
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PKD1

NM_001009944.3:p.Y2753*

Associated Papers

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Cornec-Le Gall E et al.

Journal of the American Society of Nephrology : Jasn, 2018

Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.

Cornec-Le Gall E et al.

Human Mutation, 2014

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Bergmann C et al.

Journal of the American Society of Nephrology : Jasn, 2011

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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."