Associated Papers
Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
Zhang X et al.
Seizure, 2024
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Muthaffar OY et al.
Biomedicines, 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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