Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.E1241fs
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KAT6A

NM_006766.5:p.E1241fs

Associated Papers

Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants.

Bayat S et al.

Molecular Biology Reports, 2025

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.

Di Caprio A et al.

European Journal of Medical Genetics, 2024

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