Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1621*
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PKD1

NM_001009944.3:p.Q1621*

Associated Papers

Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.

Telis N et al.

Hgg Advances, 2025

40269498 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Kim H et al.

Scientific Reports, 2019

31740684 (PubMed )
Supplement: 41598_2019_52474_MOESM1_ESM.pdf

Genetic testing in the assessment of living related kidney donors at risk of autosomal dominant polycystic kidney disease.

Simms RJ et al.

Transplantation, 2015

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2012

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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."