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DESCRIBE <http://purl.uniprot.org/SHA-384/DF20EA83BDEA863149013A272B4DDC6A50C4AE8DE10D061EB1AC49F745F9CD3E162E87D7EAC7C53E1AA22C4C7A2B483C>
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http://purl.uniprot.org/SHA-384/DF20EA83BDEA863149013A272B4DDC6A50C4AE8DE10D061EB1AC49F745F9CD3E162E87D7EAC7C53E1AA22C4C7A2B483C
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/DF20EA83BDEA863149013A272B4DDC6A50C4AE8DE10D061EB1AC49F745F9CD3E162E87D7EAC7C53E1AA22C4C7A2B483C
http://www.w3.org/2000/01/rdf-schema#comment
"glutathione synthetase autosomal mutations result in glutathione synthetase deficiency which may cause progressive retinal dystrophy with hyperpigmentations and maculopathy [case report]"
xsd:string
http://purl.uniprot.org/uniprot/#_7DF7A69DA24C920EC6C2904A55180D2100DB38EBDDFFE2855CCF1D104D34541D9AB74914D1082ECE77C0A3D53B85DD60
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/DF20EA83BDEA863149013A272B4DDC6A50C4AE8DE10D061EB1AC49F745F9CD3E162E87D7EAC7C53E1AA22C4C7A2B483C
http://purl.uniprot.org/uniprot/B7Z1C5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DF20EA83BDEA863149013A272B4DDC6A50C4AE8DE10D061EB1AC49F745F9CD3E162E87D7EAC7C53E1AA22C4C7A2B483C
http://purl.uniprot.org/uniprot/#_B7Z1C5-mappedCitation-17206463
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DF20EA83BDEA863149013A272B4DDC6A50C4AE8DE10D061EB1AC49F745F9CD3E162E87D7EAC7C53E1AA22C4C7A2B483C