Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.E99*
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PKD2

NM_000297.4:p.E99*

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

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Priolo M et al.

Genes, 2022

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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."