Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.
- NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_assertion description "[Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.
- NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_assertion evidence source_evidence_literature NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.
- NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_assertion SIO_000772 11941538 NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.
- NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_assertion wasDerivedFrom lhgdn-20090331 NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.
- NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_assertion wasGeneratedBy ECO_0000203 NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP216716.RAOabupeFteR9ZUXHOVc-xRhuPv-FSwxTvWjxmlYH9pc8130_provenance.