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Mosaic mutations in early-onset genetic diseases

PURPOSE: An emerging approach in medical genetics is to identify de novo mutations in patients with severe early-onset genetic disease that are absent in population controls and in the patient’s parents. This approach, however, frequently misses post-zygotic “mosaic” mutations that are present in on...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Halvorsen, Matt, Petrovski, Slavé, Shellhaas, Renée, Tang, Yingying, Crandall, Laura, Goldstein, David, Devinsky, Orrin
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929028/
https://ncbi.nlm.nih.gov/pubmed/26716362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.155
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