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DESCRIBE <http://purl.uniprot.org/SHA-384/3D0976EBC6D6AF5BB6BEF431A5ECD637F823C43C94C380AE300B6B6AAC2FEA76E7F3948ADF1C60B93574F6FF258D563B>
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http://purl.uniprot.org/SHA-384/3D0976EBC6D6AF5BB6BEF431A5ECD637F823C43C94C380AE300B6B6AAC2FEA76E7F3948ADF1C60B93574F6FF258D563B
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3D0976EBC6D6AF5BB6BEF431A5ECD637F823C43C94C380AE300B6B6AAC2FEA76E7F3948ADF1C60B93574F6FF258D563B
http://www.w3.org/2000/01/rdf-schema#comment
"show that an intronic mutation 478 bp upstream of exon 2 in the MSH2 gene causes Lynch syndrome through creation of a novel splice donor site with subsequent pseudoexon activation"
xsd:string
http://purl.uniprot.org/uniprot/#_660B74D5449908AA5B0167C7F4C844A524A199BDE6036431FEDE105EAA0CAB1BC6E9917E0EA9D06B4539CD99ACC37083
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3D0976EBC6D6AF5BB6BEF431A5ECD637F823C43C94C380AE300B6B6AAC2FEA76E7F3948ADF1C60B93574F6FF258D563B
http://purl.uniprot.org/uniprot/B4DSB9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3D0976EBC6D6AF5BB6BEF431A5ECD637F823C43C94C380AE300B6B6AAC2FEA76E7F3948ADF1C60B93574F6FF258D563B
http://purl.uniprot.org/uniprot/#_B4DSB9-mappedCitation-21360204
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3D0976EBC6D6AF5BB6BEF431A5ECD637F823C43C94C380AE300B6B6AAC2FEA76E7F3948ADF1C60B93574F6FF258D563B