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DESCRIBE <http://purl.uniprot.org/SHA-384/C8AC5FB34D512464E40004DBF9CF8B14BE94AD26674E8ADE039FFD768E6A6D27D78776F3071E62EFCE6B13BE8B589F94>
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http://purl.uniprot.org/SHA-384/C8AC5FB34D512464E40004DBF9CF8B14BE94AD26674E8ADE039FFD768E6A6D27D78776F3071E62EFCE6B13BE8B589F94
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C8AC5FB34D512464E40004DBF9CF8B14BE94AD26674E8ADE039FFD768E6A6D27D78776F3071E62EFCE6B13BE8B589F94
http://www.w3.org/2000/01/rdf-schema#comment
"In this largest cohort of reported patients with a mutated EFEMP2 gene we illustrate the phenotypic spectrum of inherited AA due to a novel EFEMP2 mutation."
xsd:string
http://purl.uniprot.org/uniprot/#_9856AB1E78E10F78BE47815D0CC50A6EC1B0F97DD5181A6F961642CB9471A363B6E81B574E33A33494242A2A994DF219
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C8AC5FB34D512464E40004DBF9CF8B14BE94AD26674E8ADE039FFD768E6A6D27D78776F3071E62EFCE6B13BE8B589F94
http://purl.uniprot.org/uniprot/Q9H3D5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C8AC5FB34D512464E40004DBF9CF8B14BE94AD26674E8ADE039FFD768E6A6D27D78776F3071E62EFCE6B13BE8B589F94
http://purl.uniprot.org/uniprot/#_Q9H3D5-mappedCitation-22440127
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C8AC5FB34D512464E40004DBF9CF8B14BE94AD26674E8ADE039FFD768E6A6D27D78776F3071E62EFCE6B13BE8B589F94