Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_assertion> ?p ?o ?g. }
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- NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_assertion type Assertion NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_head.
- NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_assertion description "[We conclude that the nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_provenance.
- NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_assertion evidence source_evidence_literature NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_provenance.
- NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_assertion SIO_000772 11809723 NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_provenance.
- NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_assertion wasDerivedFrom befree-20150227 NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_provenance.
- NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_assertion wasGeneratedBy ECO_0000203 NP418898.RAiit9ZglOy6T3q-fhe-VZzil8M_G5JuGDIa4CyHzMQDs130_provenance.