Article

Mimicking Human EED Variants in Drosophila: A Promising Strategy to Analyse Human EED Variant Function

2024-02-21

Abstract excerpt

The Polycomb Repressive Complex 2 is an epigenetic reader/writer that methylates histone H3K27. Rare germline partial loss of function (pLoF) variants in core members of the complex (EZH2, EED, SUZ12) cause overgrowth and intellectual disability syndromes, whereas somatic variants are implicated in cancer. However, up to 1% of the general population will have a rare variant in one of these genes, most of which wou...

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Literature Corpus work: 927e3be8-110c-5073-aa80-e8e452e0aedb
DOI: 10.1101/2024.02.18.580839

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