Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.D435del1
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ACHE

NM_000665.5:p.D435del1

Associated Papers

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

Shen XM et al.

Brain : a Journal of Neurology, 2005

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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."