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DESCRIBE <http://purl.uniprot.org/SHA-384/00734FE7FEB4FE002EEB5F38641E3A3B8A31A4FB1250BCCF0F5481BD06BF2A34822C6BEADA3B1A1FFDD26C8933ECFB9E>
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http://purl.uniprot.org/SHA-384/00734FE7FEB4FE002EEB5F38641E3A3B8A31A4FB1250BCCF0F5481BD06BF2A34822C6BEADA3B1A1FFDD26C8933ECFB9E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/00734FE7FEB4FE002EEB5F38641E3A3B8A31A4FB1250BCCF0F5481BD06BF2A34822C6BEADA3B1A1FFDD26C8933ECFB9E
http://www.w3.org/2000/01/rdf-schema#comment
"The authors report two GCDH-deficient patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood."
xsd:string
http://purl.uniprot.org/uniprot/#_FDD94D6668DB4047EED13D70491FA11CDDD382B2EE5EE8E694F6DED4D3F0FF86036C79522159BA657DCE07E2E3A5AF48
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/00734FE7FEB4FE002EEB5F38641E3A3B8A31A4FB1250BCCF0F5481BD06BF2A34822C6BEADA3B1A1FFDD26C8933ECFB9E
http://purl.uniprot.org/uniprot/Q92947
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/00734FE7FEB4FE002EEB5F38641E3A3B8A31A4FB1250BCCF0F5481BD06BF2A34822C6BEADA3B1A1FFDD26C8933ECFB9E
http://purl.uniprot.org/uniprot/#_Q92947-mappedCitation-15985591
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/00734FE7FEB4FE002EEB5F38641E3A3B8A31A4FB1250BCCF0F5481BD06BF2A34822C6BEADA3B1A1FFDD26C8933ECFB9E