Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Holly Melland, Fabian Bumbak, Anna Kolesnik…·Kate Baker
This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.
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