Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.

Autor: Ryan-Phillips F; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DS, UK., Henehan L; Neurology Department, John Radcliffe Hospital, Oxford OX3 9DU, UK., Ramdas S; Department of Paediatric Neurology, John Radcliffe Hospital, Oxford OX3 9DU, UK.; MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK., Palace J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DS, UK.; Neurology Department, John Radcliffe Hospital, Oxford OX3 9DU, UK., Beeson D; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DS, UK., Dong YY; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DS, UK.

Publikováno v: Biomedicines [Biomedicines] 2024 Nov 08; Vol. 12 (11). Date of Electronic Publication: 2024 Nov 08.