Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_assertion> ?p ?o ?g. }
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- NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_assertion type Assertion NP418690.RAmNLHXB8WiK6K48kXqPH_dWhUKAb77X3jojTd_LEW31A130_head.
- 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.