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A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster
EZH1 (Enhancer of Zeste, homolog 1), a Polycomb Repressive Complex-2 (PRC2) component, is involved in a myriad of cellular processes through modifying histone 3 lysine27 (H3K27) residues. EZH1 represses transcription of downstream target genes through H3K27 trimethylation (H3K27me3). Genetic mutatio...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915809/ https://www.ncbi.nlm.nih.gov/pubmed/36778246 http://dx.doi.org/10.1101/2023.01.31.23285113 |