Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.K1013_K1014Splc
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KAT6A

NM_006766.5:p.K1013_K1014Splc

Associated Papers

Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.

Wang Q et al.

Molecular Genetics & Genomic Medicine, 2024

38773911 (PubMed )
Supplement: MGG3-12-e2420-s001.xlsx › Table_S1
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