Konu "RRID:AB_2536821" için Dahili Tıp Bilimleri Bölümü Koleksiyonu listeleme
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An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model
(Wiley, 2020;00:1–)ACTL6B is a component of the neuronal BRG1/brm-associated factor (nBAF) complex, which is required for chromatin remodeling in postmitotic neurons. We recently reported biallelic pathogenic variants in ACTL6B in patients ...