Article

Quantification of the effects of single nucleotide variants in NKX2.1 transcription factor binding sites

2026-02-27

Abstract excerpt

Transcription factors recognise and bind specific DNA sequence patterns in promoters and enhancers thereby regulating gene expression. Variations in the DNA sequence of transcription factor binding sites (TFBSs) can alter gene regulation and may disrupt development. The transcription factor NKX2.1 is a crucial regulator of thyroid, lung, and neural development. Mutations in its coding gene NKX2-1 may cause choreo...

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Literature Corpus work: 08de519f-9264-5241-9cad-5bd9116278a3
DOI: 10.64898/2026.02.27.708450

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