A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks
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DOI: 10.1093/hmg/ddaa151
Abstract: Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms. We investigated initially by interrogating a novel synonymous UPF3B variant in a male with absent speech. In-silico and functional… read more here.
Keywords: gene networks; speech; disorder; upf3b variant ... See more keywords