Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.
- befree-20150227 importedOn "2015-02-27" NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.
- NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_assertion wasGeneratedBy ECO_0000203 NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.
- NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_assertion wasDerivedFrom befree-20150227 NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.
- NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_assertion SIO_000772 1979048 NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.
- NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_assertion evidence source_evidence_literature NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.
- NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_assertion description "[Two independent familial STS deletions, one of which is associated with a phenotype of ichthyosis plus ocular albinism (XI/OA1) and the other with nystagmus plus Rud syndrome, lack some but not all of the normal S232 PFGE fragments.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP253075.RAv27TnQJyXwZ32LP28Q4jeio7KcN7IPkPyR2JzLQR6Ic130_provenance.