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DESCRIBE <http://purl.uniprot.org/SHA-384/B4DC9538EF8D648DE0DEFCE6F21A47E37332858034FA6DEB713CB2ABF11A543C26C140D8FA2621D610AB260EA63547EF>
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http://purl.uniprot.org/SHA-384/B4DC9538EF8D648DE0DEFCE6F21A47E37332858034FA6DEB713CB2ABF11A543C26C140D8FA2621D610AB260EA63547EF
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/B4DC9538EF8D648DE0DEFCE6F21A47E37332858034FA6DEB713CB2ABF11A543C26C140D8FA2621D610AB260EA63547EF
http://www.w3.org/2000/01/rdf-schema#comment
"Pathogenic nucleotide variant NG_009289.1(NM_000082.3):c.173+1119G>C was identified in two siblings with severe but long-term survival Cockayne syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_78AD213A3B5EBCEBF7A245B6FDC474B9C4A4F90ABAFCF59E602C89CDAFBC9A14587C26706509622A13AE449DD27D5B3F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/B4DC9538EF8D648DE0DEFCE6F21A47E37332858034FA6DEB713CB2ABF11A543C26C140D8FA2621D610AB260EA63547EF
http://purl.uniprot.org/uniprot/Q13216
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B4DC9538EF8D648DE0DEFCE6F21A47E37332858034FA6DEB713CB2ABF11A543C26C140D8FA2621D610AB260EA63547EF
http://purl.uniprot.org/uniprot/#_Q13216-mappedCitation-29422660
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B4DC9538EF8D648DE0DEFCE6F21A47E37332858034FA6DEB713CB2ABF11A543C26C140D8FA2621D610AB260EA63547EF