Varaico: Literature-Extracted Genetic Variants

Gene:ACTL6B
Variant:p.W247*
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ACTL6B

NM_016188.5:p.W247*

Associated Papers

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419

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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