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Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

Mosaicism is defined as the coexistence of cells with different genetic composition within an individual, caused by postzygotic somatic mutation. Although somatic mosaicism for chromosomal abnormalities is a well-established cause of developmental and somatic disorders and has also been detected in...

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Main Authors: Rodríguez-Santiago, Benjamín, Malats, Núria, Rothman, Nathaniel, Armengol, Lluís, Garcia-Closas, Montse, Kogevinas, Manolis, Villa, Olaya, Hutchinson, Amy, Earl, Julie, Marenne, Gaëlle, Jacobs, Kevin, Rico, Daniel, Tardón, Adonina, Carrato, Alfredo, Thomas, Gilles, Valencia, Alfonso, Silverman, Debra, Real, Francisco X., Chanock, Stephen J., Pérez-Jurado, Luis A.
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2010
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גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896781/
https://ncbi.nlm.nih.gov/pubmed/20598279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.06.002
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