Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L3048H
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PKD1

NM_001009944.3:p.L3048H

Associated Papers

Polycystin-1 Mutant Alters Mechanotransduction in Response to Collagen and Extracellular Matrix Stiffness via Daam1-Dependent Microfilament Remodeling.

Zhou J et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

Genetic Analysis of Severe Polycystic Liver Disease in Japan.

Mizuno H et al.

Kidney360, 2024

Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.

Orisio S et al.

Nephron, 2024

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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."