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Paper Details

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
6
2023
17q22, ASF, DD, DNA, Drosophila, ID, NDD, SF2, SRSF1, SRSF1 haploinsufficiency, SRSF1 variants, arginine, blood-derived DNA, cardiac, developmental delay, haploinsufficiency of SRSF1, hypotonia, intellectual disability, mRNA, mice, neurobehavioral problems, neurodevelopmental disorder, proto-oncogene, region, serine, syndromic NDD, syndromic developmental disorder
Author NameAffiliation
Jennifer E PoseyBaylor College of Medicine
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
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