Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.
- NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_assertion description "[Whole exome sequencing identified in both patients compound heterozygous mutations of TMPRSS6 leading to p.G442R and p.E522K, 2 mutations previously reported to cause classic IRIDA, and no additional mutations in known iron-regulatory genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.
- NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_assertion evidence source_evidence_literature NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.
- NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_assertion SIO_000772 23319530 NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.
- NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_assertion wasDerivedFrom befree-2016 NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.
- NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_assertion wasGeneratedBy ECO_0000203 NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_provenance.