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- source_evidence_literature type ECO_0000212 NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.
- NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_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." NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.
- NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_assertion evidence source_evidence_literature NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.
- NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_assertion SIO_000772 11809723 NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.
- NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_assertion wasDerivedFrom befree-20150227 NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.
- NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_assertion wasGeneratedBy ECO_0000203 NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP418681.RAi6cREi7DnHegDvgNQilS7Ol3ud4_ArCUuhyIiXzVRyg130_provenance.