Associated Papers
A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children.
Tan KA et al.
Journal of Pediatric Genetics, 2024
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
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
Tan JS et al.
Muscle & Nerve, 2016
Select a paper to view details