Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants.
Girirajan, Santhosh; Rosenfeld, Jill A.; Coe, Bradley P.; Parikh, Sumit; Friedman, Neil; Goldstein, Amy; Filipink, Robyn A.; McConnell, Juliann S.; Angle, Brad; Meschino, Wendy S.; Nezarati, Marjan M.; Asamoah, Alexander; Jackson, Kelly E.; Gowans, Gordon C.; Martin, Judith A.; Carmany, Erin P.; Stockton, David W.; Schnur, Rhonda E.; Penney, Lynette S.; Martin, Donna M.; New England Journal of Medicine, 2012, vol. 367, issue 14, p 1321, ISSN 00284793. ISBN 00284793.

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