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DESCRIBE <http://purl.uniprot.org/SHA-384/F46AEF39FD83A2C2AEC022D3F2CC43EDBFF9F50D11D0198C4E00061EE1C86EDD6442FDEB9AE9DCFB5AC2D2FADDC7DBDD>
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http://purl.uniprot.org/SHA-384/F46AEF39FD83A2C2AEC022D3F2CC43EDBFF9F50D11D0198C4E00061EE1C86EDD6442FDEB9AE9DCFB5AC2D2FADDC7DBDD
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/F46AEF39FD83A2C2AEC022D3F2CC43EDBFF9F50D11D0198C4E00061EE1C86EDD6442FDEB9AE9DCFB5AC2D2FADDC7DBDD
http://www.w3.org/2000/01/rdf-schema#comment
"AS may also occur in the Roma population with a new mutation being found: frameshift mutation c.2604delT in the exon 20 of the SLC12A6 gene. Roma patients with probable AS should be primarily tested for this mutation."
xsd:string
http://purl.uniprot.org/uniprot/#_D1F250B1CF7B055AB4A08CDF288788FE3D3033EE75E609FF97B5E24DF52B1CFBFFC0BBDF3647A5FB9DE699DC675F00A6
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/F46AEF39FD83A2C2AEC022D3F2CC43EDBFF9F50D11D0198C4E00061EE1C86EDD6442FDEB9AE9DCFB5AC2D2FADDC7DBDD
http://purl.uniprot.org/uniprot/Q6NSI7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F46AEF39FD83A2C2AEC022D3F2CC43EDBFF9F50D11D0198C4E00061EE1C86EDD6442FDEB9AE9DCFB5AC2D2FADDC7DBDD
http://purl.uniprot.org/uniprot/#_Q6NSI7-mappedCitation-30868738
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F46AEF39FD83A2C2AEC022D3F2CC43EDBFF9F50D11D0198C4E00061EE1C86EDD6442FDEB9AE9DCFB5AC2D2FADDC7DBDD