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

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

Background/Objectives: Congenital myasthenic syndromes (CMSs) are caused by variants in >30 genes with increasing numbers of variants of unknown significance (VUS) discovered by next-generation sequencing. Establishing VUS pathogenicity requires in vitro studies that slow diagnosis and treatment...

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Bibliographic Details
Main Authors: Finlay Ryan-Phillips, Leighann Henehan, Sithara Ramdas, Jacqueline Palace, David Beeson, Yin Yao Dong
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Biomedicines
Subjects:
CMS
AlphaFold2
ColabFold
AlphaMissense
pathogenicity
prediction
Online Access:https://www.mdpi.com/2227-9059/12/11/2549
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