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DESCRIBE <http://purl.uniprot.org/SHA-384/C46401ACC59DBFF57861B72B0C22D8E97AC19C5A945A9905117667A048F374C1A3F9C851863C0A4D4C0BFE4475EF0CA8>
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http://purl.uniprot.org/SHA-384/C46401ACC59DBFF57861B72B0C22D8E97AC19C5A945A9905117667A048F374C1A3F9C851863C0A4D4C0BFE4475EF0CA8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C46401ACC59DBFF57861B72B0C22D8E97AC19C5A945A9905117667A048F374C1A3F9C851863C0A4D4C0BFE4475EF0CA8
http://www.w3.org/2000/01/rdf-schema#comment
"In all five patients with autosomal-recessive type of tetraplegic cerebral palsy with mental retardation a donor splice site pathogenic mutation in intron 14 of the AP4M1 gene (c.1137+1G-->T) was identified."
xsd:string
http://purl.uniprot.org/uniprot/#_35B5559DA9B5892E73DF5CECF647081BE3888454FEBD1D82EB8FD6A93D04ED40A15BC6490CA71C039CB1BF883227A266
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C46401ACC59DBFF57861B72B0C22D8E97AC19C5A945A9905117667A048F374C1A3F9C851863C0A4D4C0BFE4475EF0CA8
http://purl.uniprot.org/uniprot/B4DKN7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C46401ACC59DBFF57861B72B0C22D8E97AC19C5A945A9905117667A048F374C1A3F9C851863C0A4D4C0BFE4475EF0CA8
http://purl.uniprot.org/uniprot/#_B4DKN7-mappedCitation-19559397
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C46401ACC59DBFF57861B72B0C22D8E97AC19C5A945A9905117667A048F374C1A3F9C851863C0A4D4C0BFE4475EF0CA8