Varaico: Literature-Extracted Genetic Variants

Gene:ACTL6B
Variant:p.P339_G340Splc
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ACTL6B

NM_016188.5:p.P339_G340Splc

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

Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature.

Han X et al.

Children (basel, Switzerland), 2022

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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."