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DESCRIBE <http://purl.uniprot.org/SHA-384/9E72C298AB8BECB2C7CA0EBF332BD47CB70E8E971EF55D0116E47C2E17BAB229342305A2F02AA626C240706F750671C0>
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http://purl.uniprot.org/SHA-384/9E72C298AB8BECB2C7CA0EBF332BD47CB70E8E971EF55D0116E47C2E17BAB229342305A2F02AA626C240706F750671C0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/9E72C298AB8BECB2C7CA0EBF332BD47CB70E8E971EF55D0116E47C2E17BAB229342305A2F02AA626C240706F750671C0
http://www.w3.org/2000/01/rdf-schema#comment
"Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing."
xsd:string
http://purl.uniprot.org/uniprot/#_DD4053B315F28A0E3659848C4511208D5FF0F46F9924540D3E13F3367674847CB7BA96CEBEE68838BC3D18E7CF7B179A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/9E72C298AB8BECB2C7CA0EBF332BD47CB70E8E971EF55D0116E47C2E17BAB229342305A2F02AA626C240706F750671C0
http://purl.uniprot.org/uniprot/B0LXL0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/9E72C298AB8BECB2C7CA0EBF332BD47CB70E8E971EF55D0116E47C2E17BAB229342305A2F02AA626C240706F750671C0
http://purl.uniprot.org/uniprot/#_B0LXL0-mappedCitation-32926178
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/9E72C298AB8BECB2C7CA0EBF332BD47CB70E8E971EF55D0116E47C2E17BAB229342305A2F02AA626C240706F750671C0