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 ini...

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Principais autores:	Finlay Ryan-Phillips, Leighann Henehan, Sithara Ramdas, Jacqueline Palace, David Beeson, Yin Yao Dong
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2024-11-01
Serija:	Biomedicines
Teme:	CMS AlphaFold2 ColabFold AlphaMissense pathogenicity prediction
Online dostop:	https://www.mdpi.com/2227-9059/12/11/2549
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