Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.
- NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_assertion description "[We have now identified the defect in Td mice as a single amino acid substitution in the delta8-delta7 sterol isomerase emopamil binding protein (Ebp; encoded by Ebp in mouse) and identified alterations in human EBP in seven unrelated CDPX2 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.
- NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_assertion evidence source_evidence_curated NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.
- NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_assertion SIO_000772 10391218 NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.
- NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_assertion wasDerivedFrom uniprot-20130724 NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.
- NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_assertion wasGeneratedBy ECO_0000218 NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1889.RAXQ5hHJ--trlMbVMomal1BhmGBuDZoCate4WmHf39G34130_provenance.