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A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

There is a complex relationship between the evolution of segmental duplications and rearrangements associated with human disease. We performed a detailed analysis of one region on chromosome 16p12.1 associated with neurocognitive disease and identified one of the largest structural inconsistencies w...

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Detalles Bibliográficos
Autores principales:	Antonacci, Francesca, Kidd, Jeffrey M., Marques-Bonet, Tomas, Teague, Brian, Ventura, Mario, Girirajan, Santhosh, Alkan, Can, Campbell, Catarina D., Vives, Laura, Malig, Maika, Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Graves, Tina A., Wilson, Richard K., Schwartz, David C., Eichler, Evan E.
Formato:	Texto
Lenguaje:	English
Publicado:	2010
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930074/ https://www.ncbi.nlm.nih.gov/pubmed/20729854 http://dx.doi.org/10.1038/ng.643

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