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DESCRIBE <http://purl.uniprot.org/SHA-384/7824BF58C93416EAF8140542AB32DC01398A2C2B704E358A31755AB5665D98226EB7460061F0A0F903F87FDE006163C6>
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http://purl.uniprot.org/SHA-384/7824BF58C93416EAF8140542AB32DC01398A2C2B704E358A31755AB5665D98226EB7460061F0A0F903F87FDE006163C6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/7824BF58C93416EAF8140542AB32DC01398A2C2B704E358A31755AB5665D98226EB7460061F0A0F903F87FDE006163C6
http://www.w3.org/2000/01/rdf-schema#comment
"BBS7 gene was a novel variant (c.103-1G>A) in the consensus splice acceptor site which altered the splicing recognition site of 'AG' to 'AA' at the BBS7 gene intron 2 and exon 3 boundary."
xsd:string
http://purl.uniprot.org/uniprot/#_E4A4B3067ED656C9B52D3DCF9051B5C0D50548208F3B9333576F96E5400270574BF876EB51C723370844144D1CD474ED
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/7824BF58C93416EAF8140542AB32DC01398A2C2B704E358A31755AB5665D98226EB7460061F0A0F903F87FDE006163C6
http://purl.uniprot.org/uniprot/Q8IWZ6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7824BF58C93416EAF8140542AB32DC01398A2C2B704E358A31755AB5665D98226EB7460061F0A0F903F87FDE006163C6
http://purl.uniprot.org/uniprot/#_Q8IWZ6-mappedCitation-25553308
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7824BF58C93416EAF8140542AB32DC01398A2C2B704E358A31755AB5665D98226EB7460061F0A0F903F87FDE006163C6