Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.D484H
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STXBP1

NM_001032221.6:p.D484H

Associated Papers

Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.

Nguyen YTM et al.

Scientific Reports, 2024

Crucial role of two potential cytosolic regions of Nox2, 191TSSTKTIRRS200 and 484DESQANHFAVHHDEEKD500, on NADPH oxidase activation.

Li XJ et al.

The Journal of Biological Chemistry, 2005

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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."