Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

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 o...

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Detalles Bibliográficos
Autores principales: Pennings, Maartje, Meijer, Rowdy P. P., Gerrits, Monique, Janssen, Jannie, Pfundt, Rolph, de Leeuw, Nicole, Gilissen, Christian, Gardeitchik, Thatjana, Schouten, Meyke, Voermans, Nicol, van de Warrenburg, Bart, Kamsteeg, Erik-Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250492/
https://www.ncbi.nlm.nih.gov/pubmed/36781956
http://dx.doi.org/10.1038/s41431-023-01312-0

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