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DESCRIBE <http://purl.uniprot.org/SHA-384/B7C9500D1FFBA0D454F246465B2249B58B328A07F7FCA7DE05DC67DD40B36A8BE55EC2CF54419DF525A50BBBCE4E9DC9>
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http://purl.uniprot.org/SHA-384/B7C9500D1FFBA0D454F246465B2249B58B328A07F7FCA7DE05DC67DD40B36A8BE55EC2CF54419DF525A50BBBCE4E9DC9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/B7C9500D1FFBA0D454F246465B2249B58B328A07F7FCA7DE05DC67DD40B36A8BE55EC2CF54419DF525A50BBBCE4E9DC9
http://www.w3.org/2000/01/rdf-schema#comment
"This novel ALS2 splice-site mutation is causing the loss of exon 18 in the transcript which results in a frameshift after exon 17."
xsd:string
http://purl.uniprot.org/uniprot/#_1C203AC9942870DEC82BF53972307B93CA36576E43AC22DE255D0AD5F156FC0F5F3B13FC220B0F98BDCF5C2F3E1EA55D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/B7C9500D1FFBA0D454F246465B2249B58B328A07F7FCA7DE05DC67DD40B36A8BE55EC2CF54419DF525A50BBBCE4E9DC9
http://purl.uniprot.org/uniprot/A8K4R4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B7C9500D1FFBA0D454F246465B2249B58B328A07F7FCA7DE05DC67DD40B36A8BE55EC2CF54419DF525A50BBBCE4E9DC9
http://purl.uniprot.org/uniprot/#_A8K4R4-mappedCitation-19122027
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B7C9500D1FFBA0D454F246465B2249B58B328A07F7FCA7DE05DC67DD40B36A8BE55EC2CF54419DF525A50BBBCE4E9DC9