Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.G114Splc
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VHL

NM_000551.4:p.G114Splc

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

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

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