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The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study

Currently, there are still many challenges in prenatal diagnosis, such as limited or uncertain fetal phenotyping, variant interpretation, and rapid turnaround times. The aim of this study was to illustrate the value of a comprehensive genomic evaluation in prenatal diagnosis. We retrospectively revi...

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Detalles Bibliográficos
Autores principales: Fu, Fang, Li, Ru, Yu, Qiu-Xia, Dang, Xiao, Yan, Shu-Juan, Zhou, Hang, Cheng, Ken, Huang, Rui-Bin, Wang, You, Zhang, Yong-Ling, Jing, Xiang-Yi, Zhang, Li-Na, Li, Dong-Zhi, Liao, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778469/
https://www.ncbi.nlm.nih.gov/pubmed/36553632
http://dx.doi.org/10.3390/genes13122365