Varaico: Literature-Extracted Genetic Variants

Gene:ACTL6B
Variant:p.C425del1
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ACTL6B

NM_016188.5:p.C425del1

Associated Papers

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

Rowland ME et al.

Frontiers in Molecular Neuroscience, 2022

An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.

Ahn LY et al.

Journal of Neuroscience Research, 2021

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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."