Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2215Q
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PKD1

NM_001009944.3:p.R2215Q

Associated Papers

Computational exploration of protein structure dynamics and RNA structural consequences of PKD1 missense variants: implications in ADPKD pathogenesis.

Devi C et al.

3 Biotech, 2024

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."