Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1212302.RAebvbWzCBOFaVTkb_9X5GZT3_LVEj-eQsPc4Qrbm-1Y0#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- GAD importedOn "2017-02-21" provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom GAD provenance.
- assertion SIO_000772 14584882 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[In 56 of 94 patients with a classical picture of ARO, TCIRG1-dependent recessive mutations were found. In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of t]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.