Varaico: Literature-Extracted Genetic Variants

Gene:VAMP1
Variant:p.G23fs
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VAMP1

NM_014231.5:p.G23fs

Associated Papers

Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.

Natera-de Benito D et al.

Pediatric Neurology, 2024

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Polavarapu K et al.

Brain : a Journal of Neurology, 2024

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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."