Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.Q1995*
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KAT6A

NM_006766.5:p.Q1995*

Associated Papers

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM8_ESM.xlsx › Supplementary_Data_6

Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Salloum R et al.

Acta Neuropathologica Communications, 2017

29084603 (PubMed )
Supplement: 40478_2017_479_MOESM2_ESM.xlsx › HGG11

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Arboleda VA 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."