Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.
- NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_assertion description "[The p.E121K variant of NR2E3, which reportedly caused enhanced S-cone syndrome (ESCS) in Caucasians, was found concurrently in RP patients (13.4%) and control subjects from Hong Kong (10.5%) and Beijing (12.8%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.
- NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_assertion evidence source_evidence_literature NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.
- NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_assertion SIO_000772 19933183 NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.
- NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_assertion wasDerivedFrom gad-20130706 NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.
- NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_assertion wasGeneratedBy ECO_0000203 NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.
- gad-20130706 importedOn "2013-07-06" NP68807.RArEbxKjcQByoUDolcxyfpZwCfWwCWNVX8OvqojerRs4I130_provenance.