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DESCRIBE <http://purl.uniprot.org/SHA-384/E3DCE6D6F858773497EFEF92D0D03FA08E6926DDD3011F2DB9B977BDAADD508D5A706C1EFC459A2D09C04A8D522A9FFA>
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http://purl.uniprot.org/SHA-384/E3DCE6D6F858773497EFEF92D0D03FA08E6926DDD3011F2DB9B977BDAADD508D5A706C1EFC459A2D09C04A8D522A9FFA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E3DCE6D6F858773497EFEF92D0D03FA08E6926DDD3011F2DB9B977BDAADD508D5A706C1EFC459A2D09C04A8D522A9FFA
http://www.w3.org/2000/01/rdf-schema#comment
"Here we report on a novel P63 mutation (the first repeat variation described in the gene) in a patient showing overlapping phenotype of AEC and RH syndromes."
xsd:string
http://purl.uniprot.org/uniprot/#_EFA7F5F7D56A17F159FF6664B2B2B063D075F7A0F4A72DBF0F001EE4CBAB79E15F3CEB422DEB1985EF99AD885C9AF12C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E3DCE6D6F858773497EFEF92D0D03FA08E6926DDD3011F2DB9B977BDAADD508D5A706C1EFC459A2D09C04A8D522A9FFA
http://purl.uniprot.org/uniprot/C9D7D0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E3DCE6D6F858773497EFEF92D0D03FA08E6926DDD3011F2DB9B977BDAADD508D5A706C1EFC459A2D09C04A8D522A9FFA
http://purl.uniprot.org/uniprot/#_C9D7D0-mappedCitation-19239083
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E3DCE6D6F858773497EFEF92D0D03FA08E6926DDD3011F2DB9B977BDAADD508D5A706C1EFC459A2D09C04A8D522A9FFA