Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.
- NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_assertion description "[Three novel CTSC missense mutations found in 21 Papillon-Lefevre syndrome families, and a complete loss of CTSC function appears to be necessary for the manifestation of this phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.
- NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_assertion evidence source_evidence_literature NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.
- NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_assertion SIO_000772 14974080 NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.
- NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_assertion wasDerivedFrom lhgdn-20090331 NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.
- NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_assertion wasGeneratedBy ECO_0000203 NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP121885.RAl6lYmSv55soJqpGQXmJS8eZBWPKF65hGdgUjgOIvlA4130_provenance.