Varaico: Literature-Extracted Genetic Variants

Gene:ACTL6B
Variant:p.Q274*
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ACTL6B

NM_016188.5:p.Q274*

Associated Papers

Insights Into the Emerging Role of Baf53b in Autism Spectrum Disorder.

Rowland ME et al.

Frontiers in Molecular Neuroscience, 2022

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Fichera M et al.

Human Genetics, 2019

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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."