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DESCRIBE <http://purl.uniprot.org/SHA-384/E5F0543D71421A9F7190E4105749B7B769DF711EFBBF3300B45C240B7BDB900C8A708A2B78F4A89A1459E359A19E2860>
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http://purl.uniprot.org/SHA-384/E5F0543D71421A9F7190E4105749B7B769DF711EFBBF3300B45C240B7BDB900C8A708A2B78F4A89A1459E359A19E2860
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E5F0543D71421A9F7190E4105749B7B769DF711EFBBF3300B45C240B7BDB900C8A708A2B78F4A89A1459E359A19E2860
http://www.w3.org/2000/01/rdf-schema#comment
"recurrent p.Gly215Arg mutation and novel missense mutations p.Ala299Val and p.Trp319Arg in the CLCN7 gene were responsible for these three Chinese ADO-II families."
xsd:string
http://purl.uniprot.org/uniprot/#_0E9FDD967EF721CE5D08C2A4118774AB2F47993C11173B02A245BDE3DBC38F1BA4D2C494F9F7E88923B60BA1711841D1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E5F0543D71421A9F7190E4105749B7B769DF711EFBBF3300B45C240B7BDB900C8A708A2B78F4A89A1459E359A19E2860
http://purl.uniprot.org/uniprot/B7Z9L3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E5F0543D71421A9F7190E4105749B7B769DF711EFBBF3300B45C240B7BDB900C8A708A2B78F4A89A1459E359A19E2860
http://purl.uniprot.org/uniprot/#_B7Z9L3-mappedCitation-23953223
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E5F0543D71421A9F7190E4105749B7B769DF711EFBBF3300B45C240B7BDB900C8A708A2B78F4A89A1459E359A19E2860