Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_assertion> ?p ?o ?g. }
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- NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_assertion type Assertion NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_head.
- NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_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." NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.
- NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_assertion evidence source_evidence_literature NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.
- NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_assertion SIO_000772 11809723 NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.
- NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_assertion wasDerivedFrom befree-2016 NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.
- NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_assertion wasGeneratedBy ECO_0000203 NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.