A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
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Pathogenic variants in the SRCAP (SNF2-related CREBBP activator protein) gene, which encodes a chromatin-remodeling ATPase, cause neurodevelopmental disorders including Floating Harbor syndrome (FLHS). Here, we report the discovery of a de novo transposon inse... ...
