Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP429531.RA-tVyNgL9pWdjHM4v72lXRtCCaieHnmnPxLmNtrD2e04#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 11809723 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.