Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.S1052_D1053del2
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KAT6A

NM_006766.5:p.S1052_D1053del2

Associated Papers

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mattioli F et al.

American Journal of Human Genetics, 2017

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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."