Varaico: Literature-Extracted Genetic Variants

Gene:SZT2
Variant:p.G830V
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SZT2

NM_001365999.1:p.G830V

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

Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.

Yang S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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