Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L836L
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PKD1

NM_001009944.3:p.L836L

Associated Papers

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

Audrézet MP et al.

Human Mutation, 2012

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."