Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q2058R
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PKD1

NM_001009944.3:p.Q2058R

Associated Papers

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.

Ambrosini E et al.

Genes, 2023

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Cornec-Le Gall E et al.

Journal of the American Society of Nephrology : Jasn, 2018

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Audrézet MP et al.

Journal of the American Society of Nephrology : Jasn, 2016

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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."