Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.P282R
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C6

NM_000065.5:p.P282R

Associated Papers

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

Webster R et al.

Brain : a Journal of Neurology, 2012

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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."