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Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2

Copy number variants visible with the light microscope have been described as euchromatic variants (EVs) and EVs with extra G-light material at 8q21.2 have been reported only once before. We report four further patients with EVs of 8q21.2 ascertained for clinical (3) or reproductive reasons (1). Enh...

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Autors principals: Tyson, Christine, Sharp, Andrew J, Hrynchak, Monica, Yong, Siu L, Hollox, Edward J, Warburton, Peter, Barber, John CK
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3953911/
https://ncbi.nlm.nih.gov/pubmed/24045839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.185
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