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DESCRIBE <http://purl.uniprot.org/SHA-384/EAEEB0206A4DB3D3A6B090F65A3DCC784DE09735B336966EE3CBD9948AC13CD8347024813AABC6D8EFD89D60F1B3B628>
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http://purl.uniprot.org/SHA-384/EAEEB0206A4DB3D3A6B090F65A3DCC784DE09735B336966EE3CBD9948AC13CD8347024813AABC6D8EFD89D60F1B3B628
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EAEEB0206A4DB3D3A6B090F65A3DCC784DE09735B336966EE3CBD9948AC13CD8347024813AABC6D8EFD89D60F1B3B628
http://www.w3.org/2000/01/rdf-schema#comment
"CFTR 621+3 A>G should not be considered a severe CF mutation of the synthesis of significant amounts of functional CFTR protein and the absence of clinical disease in a compound (621+3 A>G/ Q552X) heterozygote individual."
xsd:string
http://purl.uniprot.org/uniprot/#_65328513EDF0B6029D2B1ED1D0F2E21C028630599689CAC9D50415053AFDC631A793B3F0D769EFD61C9067327E889C96
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EAEEB0206A4DB3D3A6B090F65A3DCC784DE09735B336966EE3CBD9948AC13CD8347024813AABC6D8EFD89D60F1B3B628
http://purl.uniprot.org/uniprot/Q6KEF5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EAEEB0206A4DB3D3A6B090F65A3DCC784DE09735B336966EE3CBD9948AC13CD8347024813AABC6D8EFD89D60F1B3B628
http://purl.uniprot.org/uniprot/#_Q6KEF5-mappedCitation-19893581
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EAEEB0206A4DB3D3A6B090F65A3DCC784DE09735B336966EE3CBD9948AC13CD8347024813AABC6D8EFD89D60F1B3B628