Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1483*
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PKD1

NM_001009944.3:p.Q1483*

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations.

Moriyama T et al.

Clinical and Experimental Nephrology, 2021

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

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB et al.

Bmc Medical Genetics, 2018

Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.

Chang MY et al.

Journal of Human Genetics, 2013

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

Hoefele J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011

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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."