Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.
- NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_assertion description "[Notable among these are: the first crystal structure for rat CYP24A1; mutagenesis studies which change the regioselectivity of the enzyme; and the finding that natural inactivating mutations of CYP24A1 cause the genetic disease idiopathic infantile hypercalcemia (IIH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.
- NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_assertion evidence source_evidence_literature NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.
- NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_assertion SIO_000772 22100522 NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.
- NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_assertion wasDerivedFrom befree-2016 NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.
- NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_assertion wasGeneratedBy ECO_0000203 NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.
- befree-2016 importedOn "2016-02-19" NP940173.RAO2Bh_knzhZmfqDjiy-aVBwnWd8nqe369CZaOKCn8K0c130_provenance.