Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2435_R2439del0
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PKD1

NM_001009944.3:p.R2435_R2439del0

Associated Papers

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Elhassan EAE et al.

Kidney International Reports, 2025

40677324 (PubMed )
Supplement: mmc1.pdf

Familial Variability of Disease Severity in Adult Patients With ADPKD.

Elhassan EAE et al.

Kidney International Reports, 2024

38481516 (PubMed )
Supplement: mmc1.pdf

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

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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."