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Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List

Clinical exome sequencing (CES) has shown great utility in the diagnosis of Mendelian disorders. CES can unravel secondary findings (SFs) unrelated to the primary diagnosis but with potential health implications. The American College of Medical Genetics and Genomics (ACMG) has published a guideline...

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Detalles Bibliográficos
Autores principales: Huang, Yingzhao, Liu, Bowen, Shi, Jile, Zhao, Sen, Xu, Kexin, Sun, Liying, Chen, Na, Tian, Wen, Zhang, Jianguo, Wu, Nan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9504640/
https://www.ncbi.nlm.nih.gov/pubmed/36143288
http://dx.doi.org/10.3390/jpm12091503