Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.D398E
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SLC18A3

NM_003055.3:p.D398E

Associated Papers

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

O'Grady GL et al.

Neurology, 2016

Possible important pair of acidic residues in vesicular acetylcholine transporter.

Khare P et al.

Biochemistry, 2010

Mutational and pH analysis of ionic residues in transmembrane domains of vesicular acetylcholine transporter.

Bravo DT et al.

Biochemistry, 2005

Mutational analysis of aspartate residues in the transmembrane regions and cytoplasmic loops of rat vesicular acetylcholine transporter.

Kim MH et al.

The Journal of Biological Chemistry, 1999

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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."