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A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China

OBJECTIVE: The context was designed to optimize the diagnostic utility of clinically focused exome sequencing (CFES) and shorten the diagnostic odyssey among pediatric patients suspected of monogenic disorders (MDs). METHODS: Here, we retrospectively analyzed the clinical notes of 372 patients from...

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Detalles Bibliográficos
Autores principales:	Jia, An, Lei, Yi, Liu, Dan-Ping, Pan, Lu, Guan, Hui-Zhen, Yang, Bicheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2023
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9901461/ https://www.ncbi.nlm.nih.gov/pubmed/36755623 http://dx.doi.org/10.2147/PGPM.S387767

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