Konu "ACTLB6" için Dahili Tıp Bilimleri Bölümü Koleksiyonu listeleme
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Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination
(Wiley, 2019)The extensive usage of next generation sequencing, particularly for the patients affected with neurodevelopmental disorders, has increased our understanding and enabled identifying novel disorder genes. Here, we report an ...