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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...

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Publicado en:Genome Med
Autores principales: Muyas, Francesc, Zapata, Luis, Guigó, Roderic, Ossowski, Stephan
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7254727/
https://ncbi.nlm.nih.gov/pubmed/32460841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00746-1
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