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Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular dystrophy but lacke...

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Detalles Bibliográficos
Autores principales:	Bruels, Christine C., Littel, Hannah R., Daugherty, Audrey L., Stafki, Seth, Estrella, Elicia A., McGaughy, Emily S., Truong, Don, Badalamenti, Jonathan P., Pais, Lynn, Ganesh, Vijay S., O'Donnell‐Luria, Anne, Stalker, Heather J., Wang, Yang, Collins, Christin, Behlmann, Andrea, Lemmers, Richard J. L. F., van der Maarel, Silvère M., Laine, Regina, Ghosh, Partha S., Darras, Basil T., Zingariello, Carla D., Pacak, Christina A., Kunkel, Louis M., Kang, Peter B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Brief Communications
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380148/ https://www.ncbi.nlm.nih.gov/pubmed/35734998 http://dx.doi.org/10.1002/acn3.51612

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