Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
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DOI: 10.1111/cge.14141
Abstract: BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variations in this complex have… read more here.
Keywords: cohort; brd4 related; cohort study; understanding new ... See more keywords