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. [electronic resource]

By: Contributor(s): Producer: 20170803Description: 62 p. digitalISSN:
  • 1471-2350
Subject(s): Online resources: In: BMC medical genetics vol. 18
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

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