Associated Papers
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome.
Yuan ZZ et al.
Frontiers in Cardiovascular Medicine, 2021
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype.
Pascolini G et al.
Clinical Genetics, 2020
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Marom R et al.
Human Mutation, 2017
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