Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R167_S168Fs
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VHL

NM_000551.4:p.R167_S168Fs

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

Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation.

Sessa A et al.

Journal of Nephrology, 0

Germline mutations in the von Hippel-Lindau gene in Italian patients.

Ciotti P et al.

European Journal of Medical Genetics, 0

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