Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L4046_L4047Splc
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PKD1

NM_001009944.3:p.L4046_L4047Splc

Associated Papers

PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease.

Li Z et al.

Nephrology (carlton, Vic.), 2025

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

Rossetti S et al.

American Journal of Human Genetics, 2001

Novel mutations in the duplicated region of PKD1 gene.

Perrichot R et al.

European Journal of Human Genetics : Ejhg, 2000

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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."