Associated Papers
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.
Ryan-Phillips F et al.
Biomedicines, 2024
39595115 (PubMed )
Supplement: biomedicines-12-02549-s001.zip › AlphaMissense_vs_Alamut_and_EVE_Results.xlsx › Sheet1
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
Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.
Durmus H et al.
Acta Neurologica Belgica, 2021
Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
Azuma Y et al.
Neuromuscular Disorders : Nmd, 2015
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