Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.S1772fs
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KAT6A

NM_006766.5:p.S1772fs

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

[Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene].

Ren Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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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."