Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.
- NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_assertion description "[Here, we report the molecular defects underlying sialidosis (mutations in sialidase; gene NEU1), galactosialidosis (mutations in cathepsin A; gene PPGB) and GM1 gangliosidosis (mutations in ?-galactosidase; gene GLB1) in Portuguese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.
- NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_assertion evidence source_evidence_literature NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.
- NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_assertion SIO_000772 21214877 NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.
- NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_assertion wasDerivedFrom befree-20140225 NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.
- NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_assertion wasGeneratedBy ECO_0000203 NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP198912.RArWuQ06c-THSoa1GsXybCBIm1L7hyqh9s-IZSX3q3Dg4130_provenance.