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DESCRIBE <http://purl.uniprot.org/SHA-384/0C2008B4937DACFA7C193058E33A6802CE09EB39D7CF5E267CBE806DC120E82DD2A928212F0B04761A442C709D6D6367>
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http://purl.uniprot.org/SHA-384/0C2008B4937DACFA7C193058E33A6802CE09EB39D7CF5E267CBE806DC120E82DD2A928212F0B04761A442C709D6D6367
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0C2008B4937DACFA7C193058E33A6802CE09EB39D7CF5E267CBE806DC120E82DD2A928212F0B04761A442C709D6D6367
http://www.w3.org/2000/01/rdf-schema#comment
"Mutation in EIF2B2 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy."
xsd:string
http://purl.uniprot.org/uniprot/#_DE728B9C36820204050FD607A7CD7A4D8212A8E1DA9BF90E05635D16012144E7979933A0F364C0C816FC284A315E9B11
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0C2008B4937DACFA7C193058E33A6802CE09EB39D7CF5E267CBE806DC120E82DD2A928212F0B04761A442C709D6D6367
http://purl.uniprot.org/uniprot/Q53XC2
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0C2008B4937DACFA7C193058E33A6802CE09EB39D7CF5E267CBE806DC120E82DD2A928212F0B04761A442C709D6D6367
http://purl.uniprot.org/uniprot/#_Q53XC2-mappedCitation-12707859
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0C2008B4937DACFA7C193058E33A6802CE09EB39D7CF5E267CBE806DC120E82DD2A928212F0B04761A442C709D6D6367