Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L178V
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VHL

NM_000551.4:p.L178V

Associated Papers

Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.

Koeller DR et al.

Cancers, 2025

Investigating the association of VHL gene variants with disease risk and clinicopathological outcomes in ccRCC patients from West Bengal, India.

Chatterjee S et al.

Urologic Oncology, 2025

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Weighted

Germ-line mutations in nonsyndromic pheochromocytoma.

Neumann HP et al.

The New England Journal of Medicine, 2002

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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."