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NCI: Human NKX2-1 wild-type allele is located in the vicinity of 14q13 and is approximately 4 kb in length. This allele, which encodes thyroid transcription factor 1 protein, is involved in the modulation of transcription for thyroid specific genes and may play a role in lung development. Mutations in the gene are associated with hypothyroidism, neonatal respiratory distress, and both benign hereditary chorea and choreoathetosis. (SwissProt and OMIM)
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