Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.F2853S
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PKD1

NM_001009944.3:p.F2853S

Associated Papers

In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.

Ibel A et al.

Biorxiv : the Preprint Server for Biology, 2025

Altered trafficking and stability of polycystins underlie polycystic kidney disease.

Cai Y et al.

The Journal of Clinical Investigation, 2014

Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

Watnick TJ et al.

Molecular Cell, 1998

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Garcia-Gonzalez MA et al.

Molecular Genetics and Metabolism, 0

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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."