Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E3020*
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PKD1

NM_001009944.3:p.E3020*

Associated Papers

Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells.

Torban E et al.

Scientific Reports, 2025

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.

Ali H et al.

Clinical Kidney Journal, 2023

Progressive development of polycystic kidney disease in the mouse model expressing Pkd1 extracellular domain.

Kurbegovic A et al.

Human Molecular Genetics, 2013

Novel mutations in the duplicated region of PKD1 gene.

Perrichot R et al.

European Journal of Human Genetics : Ejhg, 2000

Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.

Wu G et al.

Molecular Genetics and Metabolism, 2000

Mutational analysis within the 3' region of the PKD1 gene.

Badenas C et al.

Kidney International, 1999

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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."