Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q2123*
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PKD1

NM_001009944.3:p.Q2123*

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

The genetic landscape of polycystic kidney disease in Ireland.

Benson KA et al.

European Journal of Human Genetics : Ejhg, 2021

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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."