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- source_evidence_literature type ECO_0000212 NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.
- NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_assertion wasGeneratedBy ECO_0000203 NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.
- NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_assertion wasDerivedFrom befree-20150227 NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.
- NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_assertion SIO_000772 24499175 NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.
- NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_assertion evidence source_evidence_literature NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.
- NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_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." NP784310.RA9mSEHk-Mga2cOrHkzS3reyLCZfPniJ7kROSg6-qTKEA130_provenance.