Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1228169.RA_BrlOdpUSvKeaSSWxaFIVexBSt95Z9mNY06_83ErtHs#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- BEFREE importedOn "2017-02-19" provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 9694901 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The GM2 gangliosidoses are caused by mutations in the genes encoding the alpha- (Tay-Sachs) or beta- (Sandhoff) subunits of heterodimeric beta-hexosaminidase A (Hex A), or the GM2 activator protein (AB variant), a substrate-specific co-factor for Hex A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.