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- source_evidence_literature type ECO_0000212 NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP343172.RAWBXe0zqix0F3Xww_VGsnbXT_3P2bi9D1kmC_pzAnliY130_provenance.