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Familial melanoma v2.5 MITF Riyaad Aungraheeta gene: MITF was added
gene: MITF was added to Familial melanoma. Sources: Literature
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MITF were set to PMID: 42177185
Phenotypes for gene: MITF were set to Mucosal melanoma
Review for gene: MITF was set to AMBER
Added comment: The MITF E318K variant was enriched in this retrospective cohort of mucosal melanoma patients compared to population controls (OR 6.0; 95% CI 2.2–13.2).
Sources: Literature