Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1922*
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PKD1

NM_001009944.3:p.Q1922*

Associated Papers

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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

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

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

Thomas R et al.

American Journal of Human Genetics, 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."