Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.
- befree-2016 importedOn "2016-02-19" NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.
- NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_assertion wasGeneratedBy ECO_0000203 NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.
- NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_assertion wasDerivedFrom befree-2016 NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.
- NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_assertion SIO_000772 21667357 NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.
- NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_assertion evidence source_evidence_literature NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.
- NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_assertion description "[Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I collagen, and CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, and SP7 mutations were recently detected in a minority of patients with autosomal recessive OI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP901443.RArdWVjDt1lVBd1bUXhJO7H6Bp7prSsqaO0YTiKM2yCHI130_provenance.