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DESCRIBE <http://purl.uniprot.org/SHA-384/CC163D54A1B7395E6ABA9752A2B83E83473D352ABF7CA041239C04F9D7CF232965685F72D959845D3704478004A2BF3F>
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http://purl.uniprot.org/SHA-384/CC163D54A1B7395E6ABA9752A2B83E83473D352ABF7CA041239C04F9D7CF232965685F72D959845D3704478004A2BF3F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CC163D54A1B7395E6ABA9752A2B83E83473D352ABF7CA041239C04F9D7CF232965685F72D959845D3704478004A2BF3F
http://www.w3.org/2000/01/rdf-schema#comment
"We found a novel mutation in the acceptor region in exon 1 (SLC3A1 gene) and detected a heterozygosity status for the described patients."
xsd:string
http://purl.uniprot.org/uniprot/#_46C008CA586FC997E2291BFAD43805C9C991803BFB836148F42A48CDEA25576A1F02573B5B28AB9088939F731939232B
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/CC163D54A1B7395E6ABA9752A2B83E83473D352ABF7CA041239C04F9D7CF232965685F72D959845D3704478004A2BF3F
http://purl.uniprot.org/uniprot/B2R7X8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CC163D54A1B7395E6ABA9752A2B83E83473D352ABF7CA041239C04F9D7CF232965685F72D959845D3704478004A2BF3F
http://purl.uniprot.org/uniprot/#_B2R7X8-mappedCitation-26837681
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CC163D54A1B7395E6ABA9752A2B83E83473D352ABF7CA041239C04F9D7CF232965685F72D959845D3704478004A2BF3F