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DESCRIBE <http://purl.uniprot.org/SHA-384/EEF35A2A002C67E137E1A6A13499E4F2E5FDC9BB009ED9FE385BA35877CF62FDBAC87F9813602757A0FCD654E84A4520>
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http://purl.uniprot.org/SHA-384/EEF35A2A002C67E137E1A6A13499E4F2E5FDC9BB009ED9FE385BA35877CF62FDBAC87F9813602757A0FCD654E84A4520
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EEF35A2A002C67E137E1A6A13499E4F2E5FDC9BB009ED9FE385BA35877CF62FDBAC87F9813602757A0FCD654E84A4520
http://www.w3.org/2000/01/rdf-schema#comment
"Reports a novel mutation in FBN1 in a Chinese family and to diagnose this family as Marfan syndrome this also expands the genotype-phenotype correlation of this disease."
xsd:string
http://purl.uniprot.org/uniprot/#_C26F0D3E796732F0E99E10A8B9807159B448CF17FD9686FB5A48234145F2813FE666BFD53A0CA806194D21BFE75557C9
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EEF35A2A002C67E137E1A6A13499E4F2E5FDC9BB009ED9FE385BA35877CF62FDBAC87F9813602757A0FCD654E84A4520
http://purl.uniprot.org/uniprot/P35555
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EEF35A2A002C67E137E1A6A13499E4F2E5FDC9BB009ED9FE385BA35877CF62FDBAC87F9813602757A0FCD654E84A4520
http://purl.uniprot.org/uniprot/#_P35555-mappedCitation-30552983
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EEF35A2A002C67E137E1A6A13499E4F2E5FDC9BB009ED9FE385BA35877CF62FDBAC87F9813602757A0FCD654E84A4520