Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L2431Q
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PKD1

NM_001009944.3:p.L2431Q

Associated Papers

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S et al.

Clinical Genetics, 2026

40533884 (PubMed )
Supplement: CGE-109-136-s001.docx

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

García Rabaneda C et al.

Journal of Clinical Medicine, 2024

Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.

García Rabaneda C et al.

Clinical Kidney Journal, 2021

New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada.

García-Rabaneda C et al.

Nefrologia, 0

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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."