Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R113delFs
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VHL

NM_000551.4:p.R113delFs

Associated Papers

Genotype-specific neoplastic risk profiles in patients with VHL disease.

Ganner A et al.

Endocrine-related Cancer, 2025

40202835 (PubMed )
Supplement: supplementary_materials.pdf

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Chiorean A et al.

Human Mutation, 2022

35475554 (PubMed )
Supplement: HUMU-43-1268-s002.xlsx › Data_1

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

Bausch B et al.

Head & Neck, 2016

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