Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V74V
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VHL

NM_000551.4:p.V74V

Associated Papers

Von Hippel-Lindau/Hypoxia Inducible Factor Axis in Glioblastoma.

Flores I et al.

International Journal of Molecular Sciences, 2025

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL

Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria.

Perrotta S et al.

The New England Journal of Medicine, 2020

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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."