Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_assertion> ?p ?o ?g. }
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- NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_assertion type Assertion NP755126.RAd2AybXhaLL1CgXeAZoUdimvMyQ5sSyhpU2fFlvBfcR8130_head.
- 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.