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- source_evidence_literature type ECO_0000212 NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.
- NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_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." NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.
- NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_assertion evidence source_evidence_literature NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.
- NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_assertion SIO_000772 21214877 NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.
- NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_assertion wasDerivedFrom befree-2016 NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.
- NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_assertion wasGeneratedBy ECO_0000203 NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.
- befree-2016 importedOn "2016-02-19" NP863807.RALVL0XXmviDRcX4F1GwMe6E46df2PHZenu2qCSltYDHU130_provenance.