The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tiss...
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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 their contribution to genetic disorders is unknown. Therefore,...
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Full title
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues
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TN_cdi_doaj_primary_oai_doaj_org_article_e806183d477347abb71cc2063c9f5f27
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e806183d477347abb71cc2063c9f5f27
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ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-020-00746-1
