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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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Vydáno v:Genome Med
Hlavní autoři: Muyas, Francesc, Zapata, Luis, Guigó, Roderic, Ossowski, Stephan
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
On-line přístup: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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