Varaico: Literature-Extracted Genetic Variants

Gene:VAMP1
Variant:p.G18fs
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VAMP1

NM_014231.5:p.G18fs

Associated Papers

Disorders of synaptic vesicle fusion machinery.

Melland H et al.

Journal of Neurochemistry, 2021

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.

Salpietro V et al.

Annals of Neurology, 2017

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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."