Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.E555*
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STXBP1

NM_001032221.6:p.E555*

Associated Papers

Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.

Scorrano G et al.

International Journal of Molecular Sciences, 2024

Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.

Lee S et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021

De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures.

Yang P et al.

Frontiers in Neurology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."