P406 Identification of a deep-intronic variant that results in a pseudoexon in an individual with NEB-related myopathy

B. Estévez-Arias,V. Yépez, C. Ortez,L. Carrera-Garcia,J. Exposito-Escudero, A. Codina, G. Aznar-Lain, A. Diaz,C. Jou, A. Nascimento,D Natera De Benito

Neuromuscular Disorders(2023)

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关键词
pseudoexon,deep-intronic,neb-related
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