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DESCRIBE <http://purl.uniprot.org/SHA-384/857D57E75C5E0AC3BA674D1D7FA58B9D11EFBD3EE216E425E06AD3EFF77128FF2C8FA89806B9B3D8A953933D92E58D5E>
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http://purl.uniprot.org/SHA-384/857D57E75C5E0AC3BA674D1D7FA58B9D11EFBD3EE216E425E06AD3EFF77128FF2C8FA89806B9B3D8A953933D92E58D5E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/857D57E75C5E0AC3BA674D1D7FA58B9D11EFBD3EE216E425E06AD3EFF77128FF2C8FA89806B9B3D8A953933D92E58D5E
http://www.w3.org/2000/01/rdf-schema#comment
"Observations suggest that TBX1 loss-of-function mutation may be involved in the pathogenesis of isolated conotrucal heart defects (CTDs)in patients without 22q11.2 deletion."
xsd:string
http://purl.uniprot.org/uniprot/#_A125A945ADA2D0CC4FE70EA33188C33BAB6EA9A90901EE86856A9FB9CD1DF50DACDC460E1F8CE44BB6C9D6362657787B
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/857D57E75C5E0AC3BA674D1D7FA58B9D11EFBD3EE216E425E06AD3EFF77128FF2C8FA89806B9B3D8A953933D92E58D5E
http://purl.uniprot.org/uniprot/Q152R5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/857D57E75C5E0AC3BA674D1D7FA58B9D11EFBD3EE216E425E06AD3EFF77128FF2C8FA89806B9B3D8A953933D92E58D5E
http://purl.uniprot.org/uniprot/#_Q152R5-mappedCitation-24998776
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/857D57E75C5E0AC3BA674D1D7FA58B9D11EFBD3EE216E425E06AD3EFF77128FF2C8FA89806B9B3D8A953933D92E58D5E