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- source_evidence_literature type ECO_0000212 NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.
- NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_assertion description "[Missense mutations in CBS are the major cause of inherited HCU (homocystinuria).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.
- NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_assertion evidence source_evidence_literature NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.
- NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_assertion SIO_000772 22985361 NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.
- NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_assertion wasDerivedFrom befree-20150227 NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.
- NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_assertion wasGeneratedBy ECO_0000203 NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.
- befree-20150227 importedOn "2015-02-27" NP286720.RALPbV7N2-W-g_J9yFO9aq0cxNFH2j8aWzEfaKLnKHH3Y130_provenance.