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Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

De novo mutations are recognized both as an important source of genetic variation and as a prominent cause of sporadic disease in humans. Mutations identified as de novo are generally assumed to have occurred during gametogenesis and, consequently, to be present as germline events in an individual....

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Bibliographische Detailangaben
Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Acuna-Hidalgo, Rocio, Bo, Tan, Kwint, Michael P., van de Vorst, Maartje, Pinelli, Michele, Veltman, Joris A., Hoischen, Alexander, Vissers, Lisenka E.L.M., Gilissen, Christian
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2015
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4571017/
https://ncbi.nlm.nih.gov/pubmed/26054435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.05.008
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