Varaico: Literature-Extracted Genetic Variants

Gene:ACTL6B
Variant:p.G417W
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ACTL6B

NM_016188.5:p.G417W

Associated Papers

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

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

Rowland ME et al.

Frontiers in Molecular Neuroscience, 2022

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

Wenderski W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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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."