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A novel pathogenic synonymous TRAPPC2L variant causing aberrant splicing and phenotypic expansion

M. Guzman-Karlsson, S. Li, J. Faith, Z. Dardas, J. Levine,E. Edmondson, M. Sudheendra, E. Mizerik, D. Scott,M. Parnes, N. Owen,J. Posey,J. Lupski, P. Liu,D. Calame

ANNALS OF NEUROLOGY（2023）

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关键词
Neurogenetics, Neurodevelopmental Disorders, Movement Disorders
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