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Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders

OBJECTIVE: This study is to investigate the diagnostic yield of the combination of trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq) for rare neurodevelopmental disorders (NDDs). METHODS: Clinical data from consecutive pediatric patients who were diagnosed with rar...

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Detalles Bibliográficos
Autores principales:	Gao, Chao, Wang, Xiaona, Mei, Shiyue, Li, Dongxiao, Duan, Jiali, Zhang, Pei, Chen, Baiyun, Han, Liang, Gao, Yang, Yang, Zhenhua, Li, Bing, Yang, Xiu-An
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542989/ https://www.ncbi.nlm.nih.gov/pubmed/31178897 http://dx.doi.org/10.3389/fgene.2019.00485

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