Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.G360S
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SLC18A3

NM_003055.3:p.G360S

Associated Papers

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.

Della Marina A et al.

Cells, 2021

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Aran A et al.

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."