Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.V132L
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ACHE

NM_000665.5:p.V132L

Associated Papers

Structure of the Native Muscle-type Nicotinic Receptor and Inhibition by Snake Venom Toxins.

Rahman MM et al.

Neuron, 2020

Technical report: exploring the basis of congenital myasthenic syndromes in an undergraduate course, using the model organism, Caenorhabditis elegans.

Kaas B et al.

Invertebrate Neuroscience : In, 2010

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

Shen XM et al.

The Journal of Clinical Investigation, 2003

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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."