Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.
- befree-2016 importedOn "2016-02-19" NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.
- NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_assertion wasGeneratedBy ECO_0000203 NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.
- NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_assertion wasDerivedFrom befree-2016 NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.
- NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_assertion SIO_000772 12009418 NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.
- NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_assertion evidence source_evidence_literature NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.
- NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_assertion description "[A de novo mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP354700.RATvLxQ-g5L2zYMRbfej_kFzeOI1z63iv1Iab2vSqmZh8130_provenance.