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DESCRIBE <http://purl.uniprot.org/SHA-384/1F305087B81C29DE5FDC8C641B906EF9B879D7FA8A171613D255D4C35ECAB03D35A3AFCFAC8C6900B318EC22A7D42C09>
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http://purl.uniprot.org/SHA-384/1F305087B81C29DE5FDC8C641B906EF9B879D7FA8A171613D255D4C35ECAB03D35A3AFCFAC8C6900B318EC22A7D42C09
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1F305087B81C29DE5FDC8C641B906EF9B879D7FA8A171613D255D4C35ECAB03D35A3AFCFAC8C6900B318EC22A7D42C09
http://www.w3.org/2000/01/rdf-schema#comment
"homozygous LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections along with the previously described skeletal and dental abnormalities."
xsd:string
http://purl.uniprot.org/uniprot/#_D3E50566FEA816F898B82A8506C070D12DE20E29131C07C98148A8AF62C44933CF366E5C1B9D463113D77139737ADDE5
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/1F305087B81C29DE5FDC8C641B906EF9B879D7FA8A171613D255D4C35ECAB03D35A3AFCFAC8C6900B318EC22A7D42C09
http://purl.uniprot.org/uniprot/B9EG76
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1F305087B81C29DE5FDC8C641B906EF9B879D7FA8A171613D255D4C35ECAB03D35A3AFCFAC8C6900B318EC22A7D42C09
http://purl.uniprot.org/uniprot/#_B9EG76-mappedCitation-29625025
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1F305087B81C29DE5FDC8C641B906EF9B879D7FA8A171613D255D4C35ECAB03D35A3AFCFAC8C6900B318EC22A7D42C09