Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.
- NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_assertion description "[Over 300 mutations have been identified in the gene encoding PAH that result in a deficient enzyme activity and lead to the disorders hyperphenylalaninaemia and phenylketonuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.
- NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_assertion evidence source_evidence_literature NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.
- NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_assertion SIO_000772 10980574 NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.
- NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_assertion wasDerivedFrom befree-2016 NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.
- NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_assertion wasGeneratedBy ECO_0000203 NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.
- befree-2016 importedOn "2016-02-19" NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.