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The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues
BACKGROUND: Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of embryonic mosaic mutations (EMMs) have only been studied in few tissues, and t...
Autores principales: | Muyas, Francesc, Zapata, Luis, Guigó, Roderic, Ossowski, Stephan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254727/ https://www.ncbi.nlm.nih.gov/pubmed/32460841 http://dx.doi.org/10.1186/s13073-020-00746-1 |
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