Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.S152C
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STXBP1

NM_001032221.6:p.S152C

Associated Papers

STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.

Abramov D et al.

Journal of Neurochemistry, 2021

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Hamdan FF et al.

Annals of Neurology, 2009

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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."