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DESCRIBE <http://purl.uniprot.org/SHA-384/12DBEB2A7C3FB736A529D62637061E971DE938E72350EDB474FA66D84F6A6EB8FDC0718BC455AE182E9E04625FC521B5>
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http://purl.uniprot.org/SHA-384/12DBEB2A7C3FB736A529D62637061E971DE938E72350EDB474FA66D84F6A6EB8FDC0718BC455AE182E9E04625FC521B5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/12DBEB2A7C3FB736A529D62637061E971DE938E72350EDB474FA66D84F6A6EB8FDC0718BC455AE182E9E04625FC521B5
http://www.w3.org/2000/01/rdf-schema#comment
"heterozygous mutation (G>T) in intron 3 at the splice acceptor site for exon 4; this mutation is associated with not only thrombocytopenia but also impaired platelet protein phosphorylation and GPIIb-IIIa activation"
xsd:string
http://purl.uniprot.org/uniprot/#_1E23DF2611E9A08FD07416671EA0137B386176C0CE5093E15C27AF370F85106F2E0FD5CF68D521E8D56D457A4159C218
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/12DBEB2A7C3FB736A529D62637061E971DE938E72350EDB474FA66D84F6A6EB8FDC0718BC455AE182E9E04625FC521B5
http://purl.uniprot.org/uniprot/U5P039
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/12DBEB2A7C3FB736A529D62637061E971DE938E72350EDB474FA66D84F6A6EB8FDC0718BC455AE182E9E04625FC521B5
http://purl.uniprot.org/uniprot/#_U5P039-mappedCitation-14525764
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/12DBEB2A7C3FB736A529D62637061E971DE938E72350EDB474FA66D84F6A6EB8FDC0718BC455AE182E9E04625FC521B5