Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective

OBJECTIVE: To evaluate the diagnostic yield of an 89-gene panel in a large cohort of patients with suspected muscle disorders and to compare the diagnostic yield of gene panel and exome sequencing approaches. METHODS: We tested 1,236 patients from outpatient clinics across Canada using a gene panel...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Thuriot, Fanny, Gravel, Elaine, Buote, Caroline, Doyon, Marianne, Lapointe, Elvy, Marcoux, Lydia, Larue, Sandrine, Nadeau, Amélie, Chénier, Sébastien, Waters, Paula J., Jacques, Pierre-Étienne, Gravel, Serge, Lévesque, Sébastien
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7164974/
https://ncbi.nlm.nih.gov/pubmed/32337335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000408
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