Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.L431_P432insFs
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COLQ

NM_005677.4:p.L431_P432insFs

Associated Papers

First characterization of congenital myasthenic syndrome type 5 in North Africa.

Khaoula R et al.

Molecular Biology Reports, 2021

Congenital myasthenic syndrome: a brief review.

Lorenzoni PJ et al.

Pediatric Neurology, 2012

Congenital myasthenic syndromes: progress over the past decade.

Engel AG et al.

Muscle & Nerve, 2003

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Ohno K et al.

Current Neurology and Neuroscience Reports, 2002

Congenital myasthenic syndromes.

Engel AG et al.

Advances in Neurology, 2002

[Congenital myasthenic syndromes].

Eymard B

La Revue Du Praticien, 1998

[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests].

Chauplannaz G et al.

Revue Neurologique, 1994

The phenotypic expression of different mutations in transmissible human spongiform encephalopathy.

Brown P

Revue Neurologique, 1992

Congenital myasthenic syndromes: A diverse array of molecular targets.

Engel AG et al.

Journal of Neurocytology, 0

Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.

Kediha MI et al.

Revue Neurologique, 0

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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."