Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.N34S
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KAT6A

NM_006766.5:p.N34S

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

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM et al.

American Journal of Medical Genetics. Part A, 2018

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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."