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DESCRIBE <http://purl.uniprot.org/SHA-384/7FAA973A2010BEF1F2E88FFC04007451CB5C0504E5238C9FAE366B6A1F465B59FCBA5768C4C77C5DF8A4A715E6B4C22A>
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http://purl.uniprot.org/SHA-384/7FAA973A2010BEF1F2E88FFC04007451CB5C0504E5238C9FAE366B6A1F465B59FCBA5768C4C77C5DF8A4A715E6B4C22A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/7FAA973A2010BEF1F2E88FFC04007451CB5C0504E5238C9FAE366B6A1F465B59FCBA5768C4C77C5DF8A4A715E6B4C22A
http://www.w3.org/2000/01/rdf-schema#comment
"In the 64 BBS patients (44 males 20 females) were studied mutations were predominant in BBS10 and ARL6 genes; the c.272T>C; p.(I91T) mutation in ARL6 gene was a recurrent mutation"
xsd:string
http://purl.uniprot.org/uniprot/#_0BC1F1B98E5A5A7A0A2BCCBE8C3077EDD3908F527D8C87EBB2EFF24F307B8CAC6E749B88927E31C1617D56AC335BAAB0
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/7FAA973A2010BEF1F2E88FFC04007451CB5C0504E5238C9FAE366B6A1F465B59FCBA5768C4C77C5DF8A4A715E6B4C22A
http://purl.uniprot.org/uniprot/B7Z8Z2
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7FAA973A2010BEF1F2E88FFC04007451CB5C0504E5238C9FAE366B6A1F465B59FCBA5768C4C77C5DF8A4A715E6B4C22A
http://purl.uniprot.org/uniprot/#_B7Z8Z2-mappedCitation-29806606
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7FAA973A2010BEF1F2E88FFC04007451CB5C0504E5238C9FAE366B6A1F465B59FCBA5768C4C77C5DF8A4A715E6B4C22A