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DESCRIBE <http://purl.uniprot.org/SHA-384/A182E546A8D25FD627C1D05065DCFF25EF729BCC9E7C32FC368645E556FC3807F017B6DF00E28007C07991CAB0AF0E7D>
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http://purl.uniprot.org/SHA-384/A182E546A8D25FD627C1D05065DCFF25EF729BCC9E7C32FC368645E556FC3807F017B6DF00E28007C07991CAB0AF0E7D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A182E546A8D25FD627C1D05065DCFF25EF729BCC9E7C32FC368645E556FC3807F017B6DF00E28007C07991CAB0AF0E7D
http://www.w3.org/2000/01/rdf-schema#comment
"Our clinical and molecular findings showed that the phenotypic spectrum resulting from PLP1 mutations seems to be broader in patients with the PLP1 gene duplication compared to patients with both nonsense and missense mutation."
xsd:string
http://purl.uniprot.org/uniprot/#_58F57F24CBE7FCBEBBCBE112ECB9A066E3512BD607254CA1A27825328FAC38899928DB1558DEA60EC60D051353555E59
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/A182E546A8D25FD627C1D05065DCFF25EF729BCC9E7C32FC368645E556FC3807F017B6DF00E28007C07991CAB0AF0E7D
http://purl.uniprot.org/uniprot/P60201
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A182E546A8D25FD627C1D05065DCFF25EF729BCC9E7C32FC368645E556FC3807F017B6DF00E28007C07991CAB0AF0E7D
http://purl.uniprot.org/uniprot/#_P60201-mappedCitation-24519770
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A182E546A8D25FD627C1D05065DCFF25EF729BCC9E7C32FC368645E556FC3807F017B6DF00E28007C07991CAB0AF0E7D