Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existi...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Faundes, Víctor, Newman, William G., Bernardini, Laura, Canham, Natalie, Clayton-Smith, Jill, Dallapiccola, Bruno, Davies, Sally J., Demos, Michelle K., Goldman, Amy, Gill, Harinder, Horton, Rachel, Kerr, Bronwyn, Kumar, Dhavendra, Lehman, Anna, McKee, Shane, Morton, Jenny, Parker, Michael J., Rankin, Julia, Robertson, Lisa, Temple, I. Karen, Banka, Siddharth
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5778085/
https://ncbi.nlm.nih.gov/pubmed/29276005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.11.013
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