Copy Number Variation and Disease eBook

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Copy Number Variation and Disease.pdf
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9783805590938
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6,51 MB

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Variation in DNA copy number is a well-described cause of human genetic disease. 1 Copy-number variants (CNVs) associated with human pathologies range from chromosomal aneuploidy, to ...

The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found ...

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