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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.
Int Med Case Rep J. 2024 Jan 24;17:63-70. doi: 10.2147/IMCRJ.S448555. eCollection 2024.
Int Med Case Rep J. 2024.
PMID: 38283597
Free PMC article.
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