Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.
- NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_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." NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.
- NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_assertion evidence source_evidence_literature NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.
- NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_assertion SIO_000772 8530938 NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.
- NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_assertion wasDerivedFrom befree-2016 NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.
- NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_assertion wasGeneratedBy ECO_0000203 NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1344482.RAsXWShdvmytOJ9e_FpNiv7KAJhLP_ufg-rc-r6iqRJvA130_provenance.