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DESCRIBE <http://purl.uniprot.org/annotation/VAR_067973>
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http://purl.uniprot.org/annotation/VAR_067973
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Natural_Variant_Annotation
http://purl.uniprot.org/annotation/VAR_067973
http://www.w3.org/2000/01/rdf-schema#comment
"Found in a family with adult onset primary cervical dystonia; likely pathogenic; exonic splicing enhancer mutation resulting in altered CIZ1 splicing pattern."
xsd:string
http://purl.uniprot.org/annotation/VAR_067973
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs397514566
http://purl.uniprot.org/annotation/VAR_067973
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22862511629284142tt264tt264
http://purl.uniprot.org/annotation/VAR_067973
http://purl.uniprot.org/core/substitution
"G"
xsd:string
http://purl.uniprot.org/uniprot/Q9ULV3
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_067973
http://purl.uniprot.org/uniprot/#_kb.Q9ULV3_up.annotation_a.VAR_067973
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_067973