Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q209R
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VHL

NM_000551.4:p.Q209R

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

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

Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease.

Huang JS et al.

European Journal of Clinical Investigation, 2007

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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."