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- assertion wasGeneratedBy ECO_0000203 provenance.
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- assertion SIO_000772 24499175 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.