Article

Disease-Associated Non-Coding Variants Alter NKX2-5 DNA-Binding Affinity

2022-12-02

Abstract excerpt

1. Genome-wide association studies (GWAS) have mapped over 90% of disease- or trait-associated variants within the non-coding genome, like cis -regulatory elements (CREs). Non-coding single nucleotide polymorphisms (SNPs) are genomic variants that can change how DNA-binding regulatory proteins, like transcription factors (TFs), interact with the genome and regulate gene expression. NKX2-5 is a TF essential for pr...

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Literature Corpus work: c278e3b2-513a-58b7-8156-99cb16dc377a
DOI: 10.1101/2022.12.02.518772

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