Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
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DOI: 10.1016/j.ajhg.2019.09.009
Abstract: NKAP is a ubiquitously expressed nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and spliceosomal proteins. Here, we report a disorder of transcriptional regulation due to missense… read more here.
Keywords: transcriptional regulation; disorder transcriptional; marfanoid habitus; terminal region ... See more keywords