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DESCRIBE <http://purl.uniprot.org/SHA-384/8FAECAA35E1D5576837839E77970A2EA11694F0FDDEAED5618FBC332FE42F55893E2207424B7116F1299B6539FAA8DF8>
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http://purl.uniprot.org/SHA-384/8FAECAA35E1D5576837839E77970A2EA11694F0FDDEAED5618FBC332FE42F55893E2207424B7116F1299B6539FAA8DF8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8FAECAA35E1D5576837839E77970A2EA11694F0FDDEAED5618FBC332FE42F55893E2207424B7116F1299B6539FAA8DF8
http://www.w3.org/2000/01/rdf-schema#comment
"To the best of our knowledge this is the first Korean case of CHED2 confirmed by the c.1239C>A (p.C413*) mutation in the SLC4A11 gene which has not been previously reported."
xsd:string
http://purl.uniprot.org/uniprot/#_B83932FAB31833E8DFBA48F08079B56112A3AD0A9E56A5B59BA0246DE31B3ECC41A0E6EDDA7A1A0A24152EB53DAD5AEB
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8FAECAA35E1D5576837839E77970A2EA11694F0FDDEAED5618FBC332FE42F55893E2207424B7116F1299B6539FAA8DF8
http://purl.uniprot.org/uniprot/R9UQ58
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8FAECAA35E1D5576837839E77970A2EA11694F0FDDEAED5618FBC332FE42F55893E2207424B7116F1299B6539FAA8DF8
http://purl.uniprot.org/uniprot/#_R9UQ58-mappedCitation-23615275
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8FAECAA35E1D5576837839E77970A2EA11694F0FDDEAED5618FBC332FE42F55893E2207424B7116F1299B6539FAA8DF8