Article
<i>In vivo</i> deletion of a GWAS-identified <i>Myb</i> distal enhancer acts on <i>Myb</i> expression, globin switching, and clinical erythroid parameters in β-thalassemia
2025-01-22
Abstract excerpt
Genome-wide association studies (GWAS) have identified numerous genetic variants linked to human diseases, mostly located in non-coding regions of the genome, particularly in putative enhancers. However, functional assessment of the non-coding GWAS variants has progressed at slow pace, since the functions of the vast majority of genomic enhancers have not been defined, impeding interpretation of disease-susceptibi...
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Identifiers and source
- Literature Corpus work
- fc27c1d2-b7c4-5a3d-bf5c-ac81400f04d1
- DOI
- 10.1101/2025.01.17.633540
