Copy-number variations and human disease
- PMID: 17668391
- PMCID: PMC1950804
- DOI: 10.1086/519220
Copy-number variations and human disease
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A comprehensive analysis of common copy-number variations in the human genome.Am J Hum Genet. 2007 Jan;80(1):91-104. doi: 10.1086/510560. Epub 2006 Dec 5. Am J Hum Genet. 2007. PMID: 17160897 Free PMC article.
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A comprehensive analysis of common copy-number variations in the human genome.Am J Hum Genet. 2007 Jan;80(1):91-104. doi: 10.1086/510560. Epub 2006 Dec 5. Am J Hum Genet. 2007. PMID: 17160897 Free PMC article.
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References
Web Resource
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- Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for spinal muscular atrophy, distal, type V; BSCL2 mutations; SMA3; SMA4; and GCK)
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