Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.
- NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_assertion description "[Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.
- NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_assertion evidence source_evidence_literature NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.
- NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_assertion SIO_000772 8530938 NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.
- NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_assertion wasDerivedFrom befree-20140225 NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.
- NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_assertion wasGeneratedBy ECO_0000203 NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP718905.RARj6X_IoLS2AifjX5Yl5hi9n2SOnIsDGvYFn4r0TTRLc130_provenance.