Associated Papers
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Muthaffar OY et al.
Biomedicines, 2023
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
Luo S et al.
Frontiers in Molecular Neuroscience, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD et al.
Brain : a Journal of Neurology, 2022
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
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