Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q2969*
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PKD1

NM_001009944.3:p.Q2969*

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

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Pandita S et al.

Journal of Human Genetics, 2019

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

Mallawaarachchi AC et al.

European Journal of Human Genetics : Ejhg, 2016

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

Inoue S et al.

Human Mutation, 2002

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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."