Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.G2114fs
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KMT2D

NM_003482.4:p.G2114fs

Associated Papers

A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report.

Garza-Garza LA et al.

Archivos De La Sociedad Espanola De Oftalmologia, 2025

SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.

Portelinha A et al.

The Journal of Experimental Medicine, 2024

39235528 (PubMed )
Supplement: JEM_20231143_TableS3.xlsx › KMT2D_MSK_dataset
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