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pro vyhledávání: '"Jillian L, Chen"'
Autor:
Jillian L, Chen, David T, Miller, Laura S, Schmidt, David, Malkin, Bruce R, Korf, Charis, Eng, David J, Kwiatkowski, Krinio, Giannikou
Publikováno v:
Annual Review of Genomics and Human Genetics. 23:331-361
A mosaic state arises when pathogenic variants are acquired in certain cell lineages during postzygotic development, and mosaic individuals may present with a generalized or localized phenotype. Here, we review the current state of knowledge regardin