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- source_evidence_literature type ECO_0000212 NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.
- NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_assertion description "[Taken together, this report further suggests that hereditary 5-oxoprolinase deficiency is a benign biochemical condition caused by mutations in the OPLAH gene, which are transmitted in an autosomal recessive manner, but 5-oxoprolinuria may be a chance association in other disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.
- NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_assertion evidence source_evidence_literature NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.
- NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_assertion SIO_000772 25129617 NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.
- NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_assertion wasDerivedFrom befree-2016 NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.
- NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_assertion wasGeneratedBy ECO_0000203 NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.
- befree-2016 importedOn "2016-02-19" NP1211304.RABMdT9HO2EWPryV6Cu25uCvjxERajK7tpyolvdbAFGis130_provenance.