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转录组测序在孟德尔遗传病临床诊断中的应用进展

Gene panel and whole exome sequencing are now commonly used to detect Mendelian disease, but the current molecular diagnostic rate of DNA sequencing is only 35%-50%. In recent years, RNA sequencing emerges as a promising diagnostic method. It can detect new pathogenic mutations, and analyze allele-s...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Zhongguo Dang Dai Er Ke Za Zhi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 中国当代儿科杂志编辑部 2020
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7568994/
https://ncbi.nlm.nih.gov/pubmed/33059815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2005004
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