Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

Overview of attention for article published in BMC Medical Genomics, June 2017

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RT @syngapfund: Not easy to read, but fascinating for parents of #syngap1 kids to see how this case evolved. https://t.co/rQSTwN5m3E

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