Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.
- NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_assertion description "[Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.
- NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_assertion evidence source_evidence_curated NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.
- NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_assertion SIO_000772 11809723 NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.
- NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_assertion wasDerivedFrom uniprot-20130724 NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.
- NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_assertion wasGeneratedBy ECO_0000218 NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_provenance.