Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion description "[Genetic testing was performed in all patients and/or in first- or second-degree relatives to document mutation in MPZ gene indicating diagnosis of Charcot-Marie-Tooth disease type 1B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion evidence source_evidence_literature NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion SIO_000772 26310628 NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion wasDerivedFrom befree-2016 NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion wasGeneratedBy ECO_0000203 NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.