Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_assertion> ?p ?o ?g. }
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- NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_assertion type Assertion NP1043886.RAoDWsF67oNB8Y8-Ez1Xo66nQc1YvraX4x661-ILXtbuM130_head.
- 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.