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Paper published by Dr Lysa Minasi:
Case report
Case Reports
c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome
Porto MB, Castro GDME, Pereira SSS, Uchoa EMGS, Zatarin R, Minasi LB, da Cruz AD
International Medical Case Reports Journal 2024, 17:63-70
Published Date: 24 January 2024