Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.
- NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_assertion description "[Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.
- NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_assertion evidence source_evidence_literature NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.
- NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_assertion SIO_000772 11809723 NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.
- NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_assertion wasDerivedFrom befree-20150227 NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.
- NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_assertion wasGeneratedBy ECO_0000203 NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.
- befree-20150227 importedOn "2015-02-27" NP418851.RAfyO1cYENU-qr8tWVdRBy5hSVhN3Xp4pFgk7azOxhb4s130_provenance.