Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.
- NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion description "[In Finland MES is effectively screened and relatively frequent with a birth prevalence of 1:9,000 and a disease gene frequency of 0.01 (ref.4) which is of the same order of magnitude as that of the most common recessive diseases belonging to the 'Finnish disease heritage', that is genetic disorders enriched or only encountered in Finland.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.
- NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion evidence source_evidence_literature NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.
- NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion SIO_000772 7550354 NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.
- NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion wasDerivedFrom befree-20140225 NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.
- NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion wasGeneratedBy ECO_0000203 NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance.