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Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing

BACKGROUND: Whole-exome sequencing (WES) facilitates the diagnosis of hereditary neuromuscular disorders. To achieve an accurate diagnosis, physicians should interpret the genetic report carefully along with clinical information and examinations. We described our experience with (1) clinical validat...

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Detalles Bibliográficos
Autores principales:	Chen, Pin-Shiuan, Chao, Chi-Chao, Tsai, Li-Kai, Huang, Hsin-Yi, Chien, Yin-Hsiu, Huang, Pei-Hsin, Hwu, Wuh-Liang, Hsieh, Sung-Tsang, Lee, Ni-Chung, Hsueh, Hsueh-Wen, Yang, Chih-Chao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2023
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357215/ https://www.ncbi.nlm.nih.gov/pubmed/37066920 http://dx.doi.org/10.3233/JND-230013

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