Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_assertion> ?p ?o ?g. }
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- NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_assertion type Assertion NP2533.RAtVU8SbF10VeSwNIet45mcyUtdqnfU2aaFN6a6c6p180130_head.
- 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.