Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R3063C
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PKD1

NM_001009944.3:p.R3063C

Associated Papers

Activation of polycystin-1 signaling by binding of stalk-derived peptide agonists.

Pawnikar S et al.

Elife, 2024

Activation of Polycystin-1 Signaling by Binding of Stalk-derived Peptide Agonists.

Pawnikar S et al.

Biorxiv : the Preprint Server for Biology, 2024

Mechanism of tethered agonist-mediated signaling by polycystin-1.

Pawnikar S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

The GPCR properties of polycystin-1- A new paradigm.

Maser RL et al.

Frontiers in Molecular Biosciences, 2022

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Borràs DM et al.

Human Mutation, 2017

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

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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."