Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.
- NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_assertion description "[Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.
- NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_assertion evidence source_evidence_literature NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.
- NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_assertion SIO_000772 19557653 NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.
- NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_assertion wasDerivedFrom befree-20140225 NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.
- NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_assertion wasGeneratedBy ECO_0000203 NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.
- befree-20140225 importedOn "2014-02-25" NP336308.RApizFKPSqa1nsiGN6STCVBYwukLGkHysrVLe9bQxxt34130_provenance.