Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_assertion> ?p ?o ?g. }
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- NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_assertion type Assertion NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_head.
- NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_assertion wasGeneratedBy ECO_0000218 NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_provenance.
- NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_assertion wasDerivedFrom uniprot-2016 NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_provenance.
- NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_assertion SIO_000772 18065693 NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_provenance.
- NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_assertion evidence source_evidence_curated NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_provenance.
- NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_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." NP5201.RA17zbn-V0xzYA-MqvSAScXltK4u8KnFGa1Bl4LepPsdo130_provenance.