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DESCRIBE <http://purl.uniprot.org/SHA-384/FBBD5C1F8F41CC2ECB2FB5447FB21646C5EA3145E1712121B1CC571E09EF250E61B805344825529C6ACE4C4ECFD62FF0>
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http://purl.uniprot.org/SHA-384/FBBD5C1F8F41CC2ECB2FB5447FB21646C5EA3145E1712121B1CC571E09EF250E61B805344825529C6ACE4C4ECFD62FF0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FBBD5C1F8F41CC2ECB2FB5447FB21646C5EA3145E1712121B1CC571E09EF250E61B805344825529C6ACE4C4ECFD62FF0
http://www.w3.org/2000/01/rdf-schema#comment
"Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family."
xsd:string
http://purl.uniprot.org/uniprot/#_68717A2F46CD65CF4AF5086BF66CBAACB2104613825471AC19F11F810BB7DC4D589FBC4E8C18BA3AF4DA85E5455B7B73
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FBBD5C1F8F41CC2ECB2FB5447FB21646C5EA3145E1712121B1CC571E09EF250E61B805344825529C6ACE4C4ECFD62FF0
http://purl.uniprot.org/uniprot/R9UQ62
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FBBD5C1F8F41CC2ECB2FB5447FB21646C5EA3145E1712121B1CC571E09EF250E61B805344825529C6ACE4C4ECFD62FF0
http://purl.uniprot.org/uniprot/#_R9UQ62-mappedCitation-31420327
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FBBD5C1F8F41CC2ECB2FB5447FB21646C5EA3145E1712121B1CC571E09EF250E61B805344825529C6ACE4C4ECFD62FF0