Varaico: Literature-Extracted Genetic Variants

Gene:SZT2
Variant:p.R1517W
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SZT2

NM_015284.4:p.R1517W

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

Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.

Tanaka R et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2020

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