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
Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.
Arican P et al.
Neuropediatrics, 2018
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG
Handbook of Clinical Neurology, 2018
New horizons for congenital myasthenic syndromes.
Engel AG et al.
Annals of the New York Academy of Sciences, 2012
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
Shen XM et al.
Human Mutation, 2011
Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure.
Yeung WL et al.
Neonatology, 2009
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