Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.G153S
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ACHE

NM_000665.5:p.G153S

Associated Papers

[Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor].

Islam Kediha M et al.

Medecine Sciences : M/s, 2023

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

Macroscopic properties of spontaneous mutations in slow-channel syndrome: correlation by domain and disease severity.

Zayas R et al.

Synapse (new York, N.y.), 2006

Contributions of the non-alpha subunit residues (loop D) to agonist binding and channel gating in the muscle nicotinic acetylcholine receptor.

Akk G

The Journal of Physiology, 2002

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.

Croxen R et al.

Human Molecular Genetics, 1997

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

Sine SM et al.

Neuron, 1995

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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."