Article

The Hidden Burden of Structural Variants in Neurodegenerative and Neuromuscular Disorders

2026-07-27

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Neurodegenerative and neuromuscular disorders are genetically heterogeneous, and many patients remain without a genetic diagnosis after multiple rounds of clinical gene panels or exome sequencing. These approaches often fail to detect structural variants (SVs), contributing to missed diagnoses. <bold>Methods</bold> We investigated 286 individuals with neurod...

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Literature Corpus work: 911965ed-443a-5a66-94f8-ee33b8f728ff
DOI: 10.21203/rs.3.rs-10301107/v1

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