Varaico: Literature-Extracted Genetic Variants

Gene:DESI1
Variant:p.G53A
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DESI1

NM_015704.3:p.G53A

Associated Papers

Mutation of glutamate 155 of the GABAA receptor beta2 subunit produces a spontaneously open channel: a trigger for channel activation.

Newell JG et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004

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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."