Varaico: Literature-Extracted Genetic Variants

Gene:VAMP2
Variant:p.R56L
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VAMP2

NM_014232.3:p.R56L

Associated Papers

Synaptobrevin-2 disease variants reveal spatial constraints within the presynaptic active zone.

Guzikowski NJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

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

VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.

Bogue D et al.

Molecular Syndromology, 2023

Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.

Simmons RL et al.

Human Mutation, 2020

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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."