Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E204E
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VHL

NM_000551.4:p.E204E

Associated Papers

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.

Mougel G et al.

Journal of Medical Genetics, 2024

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.

Kaissarian NM et al.

Journal of the National Cancer Institute, 2022

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