Article

Copy number variants from 4,800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

2022-08-25

Abstract excerpt

<title>Abstract</title> <p>Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates of exome sequencing, it results in the detection of causative sequence variants in ‘only’ 25–30% of cases. Copy number variants (CNVs), i.e...

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Literature Corpus work: 7e023b55-0e64-5870-be3a-ff706dc822fc
DOI: 10.21203/rs.3.rs-1869739/v1

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