Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.
- NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_assertion description "[Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.
- NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_assertion evidence source_evidence_curated NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.
- NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_assertion SIO_000772 20159109 NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.
- NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_assertion wasDerivedFrom ctd_human-20130708 NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.
- NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_assertion wasGeneratedBy ECO_0000218 NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP28052.RA1ht7tVfrr_Uh8HKIhiK1K8m539SS3ayltSUMcLBPssw130_provenance.