Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
- NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_assertion wasGeneratedBy ECO_0000218 NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
- NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_assertion wasDerivedFrom uniprot-20130724 NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
- NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_assertion SIO_000772 12031625 NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
- NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_assertion evidence source_evidence_curated NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
- NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_assertion description "[X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.