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

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Absence of BRAF mutation in pheochromocytoma and paraganglioma.

Vosecka T et al.

Neoplasma, 0

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