Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.
- NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_assertion description "[Mutation of the non-muscle myosin heavy chain type II-A results in MYH9-related hereditary macrothrombocytopenia (HMTC), including four autosomal dominant platelet disorders: May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FS) and Epstein (EPS) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.
- NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_assertion evidence source_evidence_literature NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.
- NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_assertion SIO_000772 16098078 NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.
- NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_assertion wasDerivedFrom befree-2016 NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.
- NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_assertion wasGeneratedBy ECO_0000203 NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.
- befree-2016 importedOn "2016-02-19" NP508647.RAxky_89GQzeJeL760LhRMucV3Ux5pU_J1QR0WU8mXoB8130_provenance.