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DESCRIBE <http://purl.uniprot.org/SHA-384/0E3F0DB23055B9D362A04FC38DFB5287FB24C8592B671C60C0EDA6C69FF4CFD0E0D937C5603BF4B27EEFAF9AF6A22A29>
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http://purl.uniprot.org/SHA-384/0E3F0DB23055B9D362A04FC38DFB5287FB24C8592B671C60C0EDA6C69FF4CFD0E0D937C5603BF4B27EEFAF9AF6A22A29
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0E3F0DB23055B9D362A04FC38DFB5287FB24C8592B671C60C0EDA6C69FF4CFD0E0D937C5603BF4B27EEFAF9AF6A22A29
http://www.w3.org/2000/01/rdf-schema#comment
"Mutations affecting COL5A1 or COL5A2 are responsible for spectrum of mucocutaneous ocular and facial features in 62 classical Ehlers-Danlos syndrome patients."
xsd:string
http://purl.uniprot.org/uniprot/#_38598030618DBB3867858B4F85F34C6397C24CDDF7C86683D4436A35BAE982035B5554A17884EBF58FF8C6DA55108EAA
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0E3F0DB23055B9D362A04FC38DFB5287FB24C8592B671C60C0EDA6C69FF4CFD0E0D937C5603BF4B27EEFAF9AF6A22A29
http://purl.uniprot.org/uniprot/B4DNJ0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0E3F0DB23055B9D362A04FC38DFB5287FB24C8592B671C60C0EDA6C69FF4CFD0E0D937C5603BF4B27EEFAF9AF6A22A29
http://purl.uniprot.org/uniprot/#_B4DNJ0-mappedCitation-28485813
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0E3F0DB23055B9D362A04FC38DFB5287FB24C8592B671C60C0EDA6C69FF4CFD0E0D937C5603BF4B27EEFAF9AF6A22A29