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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTL6B

Variant:p.A230insFs

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ACTL6B

NM_016188.5:p.A230insFs

hg38:chr7:100647515 C>CA

Associated Papers

Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.

Agarwala P et al.

Brain Communications, 2023

38074073 (PubMed )

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