Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.
- NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_assertion description "[Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.
- NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_assertion evidence source_evidence_curated NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.
- NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_assertion SIO_000772 20140240 NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.
- NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_assertion wasDerivedFrom ctd_human-20130708 NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.
- NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_assertion wasGeneratedBy ECO_0000218 NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP29832.RA-oOl5oyK2kR6B6TIN2QPCE9CXhdT-yfMzAch7CAtB84130_provenance.