Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Insights Into the Emerging Role of Baf53b in Autism Spectrum Disorder.
Rowland ME et al.
Frontiers in Molecular Neuroscience, 2022
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Bell S et al.
American Journal of Human Genetics, 2019
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