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Ade novomissense variant inEZH1associated with developmental delay exhibits functional deficits inDrosophila melanogaster

2023-02-03

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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 mutations in histone modifiers have been associated with developmental disorders, while EZH1 has not yet been linked to an...

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Literature Corpus work: c421ccd1-af64-52d2-bb0b-26198323f862
DOI: 10.1101/2023.01.31.23285113

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A<i>de novo</i>missense variant in<i>EZH1</i>associated with developmental delay exhibits functional deficits in<i>Drosophila melanogaster</i>

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