Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.F1992L
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PKD1

NM_001009944.3:p.F1992L

Associated Papers

Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.

Ma L et al.

The Journal of Biological Chemistry, 2009

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Rossetti S et al.

American Journal of Human Genetics, 2001

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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."