A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

Overview of attention for article published in European Journal of Human Genetics, June 2022

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Manton Center Fellow @ZhaoBoxun led this project, which highlights the important role of SVA insertions in #raredisease diagnoses and supports that pathogenic variants in SRCAP landing outside the Floating Harbor Syndome locus lead to a related neurodev…

RT @ejhg_journal: A novel disorder associated with an SVA insertion in SRCAP gene. https://t.co/b0ReHYHFAz

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene https://t.co/MebUNvieS6 https://t.co/kDN7VUmr4g

RT @ejhg_journal: A novel disorder associated with an SVA insertion in SRCAP gene. https://t.co/b0ReHYHFAz

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