Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.W3298*
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PKD1

NM_001009944.3:p.W3298*

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

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.

Mallawaarachchi AC et al.

European Journal of Human Genetics : Ejhg, 2021

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

The natural history of autosomal dominant polycystic kidney disease. A strategy for grouping families and mutations.

Espinosa Cabello M 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."