Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.
- NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_assertion description "[In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.
- NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_assertion evidence source_evidence_literature NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.
- NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_assertion SIO_000772 19651702 NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.
- NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_assertion wasDerivedFrom befree-2016 NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.
- NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_assertion wasGeneratedBy ECO_0000203 NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.
- befree-2016 importedOn "2016-02-19" NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_provenance.