Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.R1169*
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KAT6A

NM_006766.5:p.R1169*

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

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S7
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