Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.G2034V
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PKD1

NM_001009944.3:p.G2034V

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_S5-_susVUS

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Urban GM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

Chang AR et al.

Jama, 2022

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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."