Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R4288_P4290delFs
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KMT2D

NM_003482.4:p.R4288_P4290delFs

Associated Papers

Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.

Gatsis A et al.

Molecular Syndromology, 2025

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