Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.
- NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_assertion description "[Mutation p.Pro244Leu, not described so far, was identified in a patient with a mild form of SMA and more distal distribution of muscle weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.
- NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_assertion evidence source_evidence_literature NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.
- NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_assertion SIO_000772 24844453 NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.
- NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_assertion wasDerivedFrom befree-20150227 NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.
- NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_assertion wasGeneratedBy ECO_0000203 NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP703552.RA8CKn1SNVbgt83VabEfpaVrwVtaJDvLJ5-uOxSh5GLYQ130_provenance.