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DESCRIBE <http://purl.uniprot.org/SHA-384/510420993A116A65BCF87B2FD10A30A2EED8C2349D75156FBBE1E8CE2843163E26227846F9E37EEF470CAB796A10D6E2>
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http://purl.uniprot.org/SHA-384/510420993A116A65BCF87B2FD10A30A2EED8C2349D75156FBBE1E8CE2843163E26227846F9E37EEF470CAB796A10D6E2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/510420993A116A65BCF87B2FD10A30A2EED8C2349D75156FBBE1E8CE2843163E26227846F9E37EEF470CAB796A10D6E2
http://www.w3.org/2000/01/rdf-schema#comment
"Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation."
xsd:string
http://purl.uniprot.org/uniprot/#_8CCBAA0EEAEA5287B082AE1291B85B158757B957470CE6AC55B9BD791CB4ADB2876AB4C9339468B9CF69C1E53EEF1190
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/510420993A116A65BCF87B2FD10A30A2EED8C2349D75156FBBE1E8CE2843163E26227846F9E37EEF470CAB796A10D6E2
http://purl.uniprot.org/uniprot/D9ZGG0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/510420993A116A65BCF87B2FD10A30A2EED8C2349D75156FBBE1E8CE2843163E26227846F9E37EEF470CAB796A10D6E2
http://purl.uniprot.org/uniprot/#_D9ZGG0-mappedCitation-34332615
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/510420993A116A65BCF87B2FD10A30A2EED8C2349D75156FBBE1E8CE2843163E26227846F9E37EEF470CAB796A10D6E2