Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion description "[Two mutations in the MCOLN1 mucolipidosis IV (ML IV) gene represent approximately 95% of the mutations in Ashkenazi-Jewish patients with ML IV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion evidence source_evidence_literature NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion SIO_000772 16645217 NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion wasDerivedFrom befree-2016 NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion wasGeneratedBy ECO_0000203 NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- befree-2016 importedOn "2016-02-19" NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.