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DESCRIBE <http://purl.uniprot.org/SHA-384/01703812E1DD0708FC48787DFD97394ABBDEEFAD8B00ED8088AE641E3F80C223CF692058FC52681C5AFEF6A6947FB104>
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http://purl.uniprot.org/SHA-384/01703812E1DD0708FC48787DFD97394ABBDEEFAD8B00ED8088AE641E3F80C223CF692058FC52681C5AFEF6A6947FB104
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/01703812E1DD0708FC48787DFD97394ABBDEEFAD8B00ED8088AE641E3F80C223CF692058FC52681C5AFEF6A6947FB104
http://www.w3.org/2000/01/rdf-schema#comment
"We report a novel homozygous mutation in MPV17 from two unrelated patients harboring axonal sensorimotor polyneuropathy without hepatoencephalopathy."
xsd:string
http://purl.uniprot.org/uniprot/#_CDA9C4F506A6862E35936459EF20B0730E48D7371C988B0AF337295CEB1214C5AA4B4C51950EAFBCF33CA85A58A943EC
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/01703812E1DD0708FC48787DFD97394ABBDEEFAD8B00ED8088AE641E3F80C223CF692058FC52681C5AFEF6A6947FB104
http://purl.uniprot.org/uniprot/G5E9F5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/01703812E1DD0708FC48787DFD97394ABBDEEFAD8B00ED8088AE641E3F80C223CF692058FC52681C5AFEF6A6947FB104
http://purl.uniprot.org/uniprot/#_G5E9F5-mappedCitation-26437932
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/01703812E1DD0708FC48787DFD97394ABBDEEFAD8B00ED8088AE641E3F80C223CF692058FC52681C5AFEF6A6947FB104