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- source_evidence_literature type ECO_0000212 NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.
- NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_assertion description "[Finally, the proband carrying the R357H mutation exhibited very high plasma cholesterol during pregnancy, whereas the proband carrying the p.R469W mutation exhibited a severe phenotype of hypercholesterolemia in combination with a LDLR mutation resulting from a frameshift at residue F382 (1209delC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.
- NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_assertion evidence source_evidence_literature NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.
- NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_assertion SIO_000772 16211558 NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.
- NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_assertion wasDerivedFrom befree-2016 NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.
- NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_assertion wasGeneratedBy ECO_0000203 NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.
- befree-2016 importedOn "2016-02-19" NP517081.RATHi8BKD1ZtoOgdDYn1XEQDYSZUVmVFreqIr0n-ToUq4130_provenance.