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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...
Autores principales: | Ji, Haiting, Lu, Jingqiao, Wang, Jianjun, Li, Huawei, Lin, Xi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194081/ https://www.ncbi.nlm.nih.gov/pubmed/25342930 http://dx.doi.org/10.1186/1472-6815-14-9 |
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