Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.
- NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_assertion description "[A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient with OTC deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.
- NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_assertion evidence source_evidence_literature NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.
- NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_assertion SIO_000772 10502831 NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.
- NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_assertion wasDerivedFrom befree-20140225 NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.
- NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_assertion wasGeneratedBy ECO_0000203 NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP619076.RABWq6_NLQr07By50KzKlQvK7lSMZxESYTzuVAr53Cfpk130_provenance.