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- source_evidence_literature type ECO_0000212 NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.
- NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_assertion description "[Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.
- NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_assertion evidence source_evidence_literature NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.
- NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_assertion SIO_000772 11809723 NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.
- NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_assertion wasDerivedFrom befree-20150227 NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.
- NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_assertion wasGeneratedBy ECO_0000203 NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.
- befree-20150227 importedOn "2015-02-27" NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_provenance.