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Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

BACKGROUND: Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the causative gene mutations involved. In this study, we combined targeted genomic capture and massively parallel sequenci...

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Podrobná bibliografie
Vydáno v:J Transl Med
Hlavní autoři: Wei, Qinjun, Zhu, Hongmei, Qian, Xuli, Chen, Zhibin, Yao, Jun, Lu, Yajie, Cao, Xin, Xing, Guangqian
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4234825/
https://ncbi.nlm.nih.gov/pubmed/25388789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-014-0311-1
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