Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.F1016delFs
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KAT6A

NM_006766.5:p.F1016delFs

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."