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Using gene panels in the diagnosis of neuromuscular disorders: A mini-review

The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and phenotypic variability. Traditionally, neurophysiology and histopathology were primarily used in the initial diagnostic approach to these conditions. Sanger sequencing for molecular diagnosis was less frequent...

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Библиографические подробности
Главные авторы: Kay W. P. Ng, Hui-Lin Chin, Amanda X. Y. Chin, Denise Li-Meng Goh
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2022-10-01
Серии:Frontiers in Neurology
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Online-ссылка:https://www.frontiersin.org/articles/10.3389/fneur.2022.997551/full
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