Article

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

2023-01-20

Abstract excerpt

Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of diverse minority neuromuscular junction (NMJ) disorders; yet a molecular explanation for the phenotypic severity differences remains unclear. Here, we present a workflow to explore t...

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Literature Corpus work: 44510ef0-45fa-51e3-8c45-70dee30434c6
DOI: 10.1101/2023.01.19.524736

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