Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.A136A
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STXBP1

NM_001032221.6:p.A136A

Associated Papers

Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle.

Bonnycastle K et al.

Journal of Neurochemistry, 2021

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Denis J et al.

Epilepsia, 2019

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

He N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."