Genomic and functional characteristics of DNA copy number variants associated with developmental abnormalities
Small gains and losses of chromosomal DNA, called copy number variants (CNVs), are the cause of many human developmental abnormalities detected before or after birth. Clinically-significant CNVs are found in 2-6% of developmentally arrested embryos and fetuses (termed miscarriage) and in ~15% of chi...
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| Language: | English |
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University of British Columbia
2017
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| Online Access: | http://hdl.handle.net/2429/63147 |