Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.
- NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_assertion wasGeneratedBy ECO_0000203 NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.
- NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_assertion wasDerivedFrom befree-20140225 NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.
- NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_assertion SIO_000772 22042571 NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.
- NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_assertion evidence source_evidence_literature NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.
- NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_assertion description "[Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance.