Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.
- NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_assertion wasGeneratedBy ECO_0000203 NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.
- NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_assertion wasDerivedFrom befree-20140225 NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.
- NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_assertion SIO_000772 19723756 NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.
- NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_assertion evidence source_evidence_literature NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.
- NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_assertion description "[A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP351317.RAUchA-p0Jlb6-U-zxYU8C5jca6sTpW4wmSerx2OWJhhk130_provenance.