DESCRIBE <http://purl.uniprot.org/SHA-384/CB78454DCFDD4363F1B2EFE764CA1C980CC07BED2B1952B51A4A468D03AF26C906A8820D920A9F7A5E38ED09F1C4D057>

Subject	Predicate	Object
http://purl.uniprot.org/SHA-384/CB78454DCFDD4363F1B2EFE764CA1C980CC07BED2B1952B51A4A468D03AF26C906A8820D920A9F7A5E38ED09F1C4D057	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CB78454DCFDD4363F1B2EFE764CA1C980CC07BED2B1952B51A4A468D03AF26C906A8820D920A9F7A5E38ED09F1C4D057	http://www.w3.org/2000/01/rdf-schema#comment	"we report a patient with SPG56 with novel compound heterozygous mutations in CYP2U1 which were identified by whole exome sequencing. Our patient exhibited complex features together with delayed myelination broadening the phenotypic spectrum of SPG56 and implying that CYP2U1 should be screened in HSP with delayed myelination"xsd:string
http://purl.uniprot.org/uniprot/#_566D4893220F8FBDF8993D0764A8F905094BDF3E4E86B823EF98DBFCEF3D1AA51A9E78242661825D1381104B8B974A62	http://www.w3.org/1999/02/22-rdf-syntax-ns#subject	http://purl.uniprot.org/SHA-384/CB78454DCFDD4363F1B2EFE764CA1C980CC07BED2B1952B51A4A468D03AF26C906A8820D920A9F7A5E38ED09F1C4D057
http://purl.uniprot.org/uniprot/Q7Z449	http://purl.uniprot.org/core/mappedAnnotation	http://purl.uniprot.org/SHA-384/CB78454DCFDD4363F1B2EFE764CA1C980CC07BED2B1952B51A4A468D03AF26C906A8820D920A9F7A5E38ED09F1C4D057
http://purl.uniprot.org/uniprot/#_Q7Z449-mappedCitation-28725025	http://purl.uniprot.org/core/mappedAnnotation	http://purl.uniprot.org/SHA-384/CB78454DCFDD4363F1B2EFE764CA1C980CC07BED2B1952B51A4A468D03AF26C906A8820D920A9F7A5E38ED09F1C4D057