Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP605020.RAgVkPoBJY5sb64XYv5Db012fXv3wUcTKvRmv_w0ejZoM#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 18065693 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.