Article

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

2024-10-04

Abstract excerpt

<h4>Background: </h4> /Objectives: Congenital Myasthenic Syndromes (CMS) 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 diagno-sis and treatment initiation. Recent protein structure prediction softwares, AlphaFold2/ColabFold, have revolutionised stru...

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Literature Corpus work: 33d6ede0-4612-5095-846a-dba0627d1b82
DOI: 10.20944/preprints202410.0347.v1

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