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DESCRIBE <http://purl.uniprot.org/SHA-384/702589CCA3C01369413034C56339363C57B388046F1A93395656F73F501CF489084B0CE46955F898B96C4985CA3D805C>
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http://purl.uniprot.org/SHA-384/702589CCA3C01369413034C56339363C57B388046F1A93395656F73F501CF489084B0CE46955F898B96C4985CA3D805C
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/702589CCA3C01369413034C56339363C57B388046F1A93395656F73F501CF489084B0CE46955F898B96C4985CA3D805C
http://www.w3.org/2000/01/rdf-schema#comment
"novel frameshift mutations in the terminal exon of the ARX gene (Ala524fsX534 and E536fsX672) were identified in 2 Ohtahara syndrome patients (2 and 13 years each) from 2 families"
xsd:string
http://purl.uniprot.org/uniprot/#_15B615A0CD70AD2CB01A63206FA7F7D8C1B3C68806F0609B0E891DA613F01DD63025034BF354FB53D2A4B2C55BB4279D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/702589CCA3C01369413034C56339363C57B388046F1A93395656F73F501CF489084B0CE46955F898B96C4985CA3D805C
http://purl.uniprot.org/uniprot/Q96QS3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/702589CCA3C01369413034C56339363C57B388046F1A93395656F73F501CF489084B0CE46955F898B96C4985CA3D805C
http://purl.uniprot.org/uniprot/#_Q96QS3-mappedCitation-20384723
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/702589CCA3C01369413034C56339363C57B388046F1A93395656F73F501CF489084B0CE46955F898B96C4985CA3D805C