Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.S1039delFs
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KAT6A

NM_006766.5:p.S1039delFs

Associated Papers

A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing.

Alkhateeb A et al.

Journal of Pediatric Genetics, 2019

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Tham E et al.

American Journal of Human Genetics, 2015

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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."