Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.
- NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_assertion description "[beta-Mannosidosis (MANB1; OMIM248510), first reported in humans in 1986, is a rare hereditary lysosomal storage disease caused by a deficiency of the enzyme beta-mannosidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.
- NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_assertion evidence source_evidence_literature NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.
- NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_assertion SIO_000772 12890191 NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.
- NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_assertion wasDerivedFrom befree-20140225 NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.
- NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_assertion wasGeneratedBy ECO_0000203 NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP601050.RAVDXRqLGdY27RKbsCy84KQPz6MbRvzpuDLioAM7GQkv0130_provenance.