Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.
- NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_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." NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.
- NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_assertion evidence source_evidence_literature NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.
- NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_assertion SIO_000772 7550354 NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.
- NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_assertion wasDerivedFrom befree-20140225 NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.
- NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_assertion wasGeneratedBy ECO_0000203 NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.
- befree-20140225 importedOn "2014-02-25" NP199408.RAu05yj_ptyc0ZY5Pt6u5UJfCxVHBEjhbsf14E-bdVX68130_provenance.