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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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Bibliografske podrobnosti
izdano v:Am J Hum Genet
Main Authors: 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
Jezik:Inglês
Izdano: Elsevier 2015
Teme:
Online dostop: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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