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Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

BACKGROUND: Copy number variations (CNVs) are the major type of structural variation in the human genome, and are more common than DNA sequence variations in populations. CNVs are important factors for human genetic and phenotypic diversity. Many CNVs have been associated with either resistance to d...

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Bibliographische Detailangaben
Hauptverfasser: Ji, Haiting, Lu, Jingqiao, Wang, Jianjun, Li, Huawei, Lin, Xi
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4194081/
https://ncbi.nlm.nih.gov/pubmed/25342930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1472-6815-14-9
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