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Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes

The routine assessment to determine the genetic etiology for fetal ultrasound anomalies follows a sequential approach, which usually takes about 6–8 weeks turnaround time (TAT). We evaluated the clinical utility of simultaneous detection of copy number variations (CNVs) and single nucleotide variant...

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Detalles Bibliográficos
Autores principales:	Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759943/ https://www.ncbi.nlm.nih.gov/pubmed/33255631 http://dx.doi.org/10.3390/genes11121397

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