Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_assertion> ?p ?o ?g. }
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- NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_assertion type Assertion NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_head.
- NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_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." NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_provenance.
- NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_assertion evidence source_evidence_literature NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_provenance.
- NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_assertion SIO_000772 11809723 NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_provenance.
- NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_assertion wasDerivedFrom befree-2016 NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_provenance.
- NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_assertion wasGeneratedBy ECO_0000203 NP343174.RAd54xgx2EweFrpobtHwCHmeIbZoI1LtuKw6hGmlnletY130_provenance.