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DESCRIBE <http://purl.uniprot.org/SHA-384/8CDFD9F9277D77792774089F53D4A8AD03E7E24F01A73984CFA141CF9E1B2DBF5EA7073BC97FB745B3D82D4708988D7E>
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http://purl.uniprot.org/SHA-384/8CDFD9F9277D77792774089F53D4A8AD03E7E24F01A73984CFA141CF9E1B2DBF5EA7073BC97FB745B3D82D4708988D7E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8CDFD9F9277D77792774089F53D4A8AD03E7E24F01A73984CFA141CF9E1B2DBF5EA7073BC97FB745B3D82D4708988D7E
http://www.w3.org/2000/01/rdf-schema#comment
"Cole-Carpenter syndrome is caused by a specific de novo mutation in P4HB that impairs the disulfide isomerase activity of protein disulfide isomerase."
xsd:string
http://purl.uniprot.org/uniprot/#_28AED23D38038D6898230D92D81FEFF8C6326E8F3C327171CC40DAAAD7981189B16500D22602485B5F962EF6272F4795
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8CDFD9F9277D77792774089F53D4A8AD03E7E24F01A73984CFA141CF9E1B2DBF5EA7073BC97FB745B3D82D4708988D7E
http://purl.uniprot.org/uniprot/A0A024R8S5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8CDFD9F9277D77792774089F53D4A8AD03E7E24F01A73984CFA141CF9E1B2DBF5EA7073BC97FB745B3D82D4708988D7E
http://purl.uniprot.org/uniprot/#_A0A024R8S5-mappedCitation-25683117
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8CDFD9F9277D77792774089F53D4A8AD03E7E24F01A73984CFA141CF9E1B2DBF5EA7073BC97FB745B3D82D4708988D7E