Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Y2444*
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PKD1

NM_001009944.3:p.Y2444*

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

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

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."