Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.
- NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_assertion wasGeneratedBy ECO_0000203 NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.
- NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_assertion wasDerivedFrom befree-2016 NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.
- NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_assertion SIO_000772 24499175 NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.
- NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_assertion evidence source_evidence_literature NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.
- NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_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." NP1152426.RAiqZP2ZZc7wA6-9_awEjTCVHQw9uhe3FnNVfYC6D_EUc130_provenance.