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
A multidimensional computational exploration of congenital myasthenic syndrome causing mutations in human choline acetyltransferase.
Janežič M et al.
Journal of Cellular Biochemistry, 2021
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G et al.
Journal of Neurology, 2018
Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.
Dilena R et al.
Journal of Child Neurology, 2014
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