Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers.
Mohammadi MF et al.
Clinical Case Reports, 2023
COLQ-related congenital myasthenic syndrome: An integrative view.
Eshaghian T et al.
Neurogenetics, 2023
Inherited disorders of the neuromuscular junction: an update.
Rodríguez Cruz PM et al.
Journal of Neurology, 2014
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM et al.
Current Opinion in Neurology, 2014
A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.
Rinz CJ et al.
Plos One, 2014
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
Nakata T et al.
Human Mutation, 2013
[Clinical features of congenital myasthenic syndrome in Japan].
Irahara K et al.
No to Hattatsu = Brain and Development, 2012
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