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DESCRIBE <http://purl.uniprot.org/SHA-384/2D1121765C22F70A705E3934BBC7E6F08CA2D05CDECBE03F2E55CEDA9222B8DF95DF63C579AA7F28AC6F0BDA707C85BC>
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http://purl.uniprot.org/SHA-384/2D1121765C22F70A705E3934BBC7E6F08CA2D05CDECBE03F2E55CEDA9222B8DF95DF63C579AA7F28AC6F0BDA707C85BC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/2D1121765C22F70A705E3934BBC7E6F08CA2D05CDECBE03F2E55CEDA9222B8DF95DF63C579AA7F28AC6F0BDA707C85BC
http://www.w3.org/2000/01/rdf-schema#comment
"3 males patients with marked delayed brain myelination and in which the clinical picture was dominated by early onset nonparoxysmal extrapyramidal symptoms. In one subject a novel mutation is described."
xsd:string
http://purl.uniprot.org/uniprot/#_6740BE2CF22554EAE2706CB9EE2C557FF203E14AF080FE16D2E19F341FFBE62CACCEE1607DA5B25CF796EFCAAF236A35
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/2D1121765C22F70A705E3934BBC7E6F08CA2D05CDECBE03F2E55CEDA9222B8DF95DF63C579AA7F28AC6F0BDA707C85BC
http://purl.uniprot.org/uniprot/P36021
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2D1121765C22F70A705E3934BBC7E6F08CA2D05CDECBE03F2E55CEDA9222B8DF95DF63C579AA7F28AC6F0BDA707C85BC
http://purl.uniprot.org/uniprot/#_P36021-mappedCitation-22805248
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2D1121765C22F70A705E3934BBC7E6F08CA2D05CDECBE03F2E55CEDA9222B8DF95DF63C579AA7F28AC6F0BDA707C85BC