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DESCRIBE <http://purl.uniprot.org/SHA-384/AAE8C0D4F850C100A211C3CC76A9E601A4391A70E9A6BB46C9715ACB69013DA425A23F5A83E5FFA3E60238B943726559>
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http://purl.uniprot.org/SHA-384/AAE8C0D4F850C100A211C3CC76A9E601A4391A70E9A6BB46C9715ACB69013DA425A23F5A83E5FFA3E60238B943726559
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/AAE8C0D4F850C100A211C3CC76A9E601A4391A70E9A6BB46C9715ACB69013DA425A23F5A83E5FFA3E60238B943726559
http://www.w3.org/2000/01/rdf-schema#comment
"This study confirms heterogeneity amongst Italian families with hereditary spastic paraplegia/thin corpus callosum and reports a new mutation predicted to affect splicing in the spatacsin gene."
xsd:string
http://purl.uniprot.org/uniprot/#_CED184A463D62695EAA987F41D85BFB619F62454BBC0C7D144EF5C2164CEF886E6EA820D5BEAAABB0F8F6C0ADB433304
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/AAE8C0D4F850C100A211C3CC76A9E601A4391A70E9A6BB46C9715ACB69013DA425A23F5A83E5FFA3E60238B943726559
http://purl.uniprot.org/uniprot/C4B7M3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AAE8C0D4F850C100A211C3CC76A9E601A4391A70E9A6BB46C9715ACB69013DA425A23F5A83E5FFA3E60238B943726559
http://purl.uniprot.org/uniprot/#_C4B7M3-mappedCitation-19087158
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AAE8C0D4F850C100A211C3CC76A9E601A4391A70E9A6BB46C9715ACB69013DA425A23F5A83E5FFA3E60238B943726559