Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.
- NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_assertion description "[We conclude that the nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.
- NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_assertion evidence source_evidence_literature NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.
- NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_assertion SIO_000772 11809723 NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.
- NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_assertion wasDerivedFrom befree-20140225 NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.
- NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_assertion wasGeneratedBy ECO_0000203 NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.
- befree-20140225 importedOn "2014-02-25" NP807503.RAm2MTXQ0uGkCbCM3RsTeTX-eMk-2YLZqcgaijYOTDS5A130_provenance.