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Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease

Copy number variants (CNVs) overlap over 7000 genes, many of which are pivotal in biological pathways. The implications of this are profound, with consequences for evolutionary studies, population genetics, gene function and human phenotype, including elucidation of genetic susceptibility to major c...

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Main Authors: de Smith, A.J., Walters, R.G., Froguel, P., Blakemore, A.I.
格式: Artigo
語言:Inglês
出版: S. Karger AG 2009
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2920180/
https://ncbi.nlm.nih.gov/pubmed/19287135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000184688
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