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Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

BACKGROUND: Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses. METHODS: We recruited 144 fetuses...

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Detalles Bibliográficos
Autores principales:	Qin, Yayun, Yao, Yanyi, Liu, Nian, Wang, Bo, Liu, Lijun, Li, Hui, Gao, Tangxinzi, Xu, Runhong, Wang, Xiaoyan, Zhang, Fanglian, Song, Jieping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601195/ https://www.ncbi.nlm.nih.gov/pubmed/37880672 http://dx.doi.org/10.1186/s12920-023-01697-3

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