The clinical impact of copy number variants in inherited bone marrow failure syndromes

Inherited bone marrow failure syndromes comprise a genetically heterogeneous group of diseases with hematopoietic failure and a wide array of physical malformations. Copy number variants were reported in some inherited bone marrow failure syndromes. It is unclear what impact copy number variants pla...

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Publicado no:NPJ Genom Med
Main Authors: Waespe, Nicolas, Dhanraj, Santhosh, Wahala, Manju, Tsangaris, Elena, Enbar, Tom, Zlateska, Bozana, Li, Hongbing, Klaassen, Robert J., Fernandez, Conrad V., Cuvelier, Geoff D. E., Wu, John K., Pastore, Yves D., Silva, Mariana, Lipton, Jeffrey H., Brossard, Joseé, Michon, Bruno, Abish, Sharon, Steele, MacGregor, Sinha, Roona, Belletrutti, Mark J., Breakey, Vicky R., Jardine, Lawrence, Goodyear, Lisa, Kofler, Liat, Cada, Michaela, Sung, Lillian, Shago, Mary, Scherer, Stephen W., Dror, Yigal
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5498150/
https://ncbi.nlm.nih.gov/pubmed/28690869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-017-0019-2
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