Abstract
Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.
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CITATION STYLE
APA
Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., … Eichler, E. E. (2012). Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants. New England Journal of Medicine, 367(14), 1321–1331. https://doi.org/10.1056/nejmoa1200395
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