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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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Detalhes bibliográficos
Publicado no:J Transl Med
Main Authors: Wei, Qinjun, Zhu, Hongmei, Qian, Xuli, Chen, Zhibin, Yao, Jun, Lu, Yajie, Cao, Xin, Xing, Guangqian
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Acesso em linha: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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