Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L118F
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VHL

NM_000551.4:p.L118F

Associated Papers

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

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_Unweighted
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