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DESCRIBE <http://purl.uniprot.org/SHA-384/F3028FAD2719575DD05EDE4EC43C2C1379063125CF3859005DC2364011FCDE2B65992DCFA049881E60CBFE80EF3DB06A>
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http://purl.uniprot.org/SHA-384/F3028FAD2719575DD05EDE4EC43C2C1379063125CF3859005DC2364011FCDE2B65992DCFA049881E60CBFE80EF3DB06A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/F3028FAD2719575DD05EDE4EC43C2C1379063125CF3859005DC2364011FCDE2B65992DCFA049881E60CBFE80EF3DB06A
http://www.w3.org/2000/01/rdf-schema#comment
"In a UK national study the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic CACNA1A mutations that predict aberrant splicing."
xsd:string
http://purl.uniprot.org/uniprot/#_9105A4784CAE91532DD18FE924E096E779509E0B95DD22E273769AD86B59FBF9CB46012BA3823A6098ABD048DDCDF91E
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/F3028FAD2719575DD05EDE4EC43C2C1379063125CF3859005DC2364011FCDE2B65992DCFA049881E60CBFE80EF3DB06A
http://purl.uniprot.org/uniprot/O00555
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F3028FAD2719575DD05EDE4EC43C2C1379063125CF3859005DC2364011FCDE2B65992DCFA049881E60CBFE80EF3DB06A
http://purl.uniprot.org/uniprot/#_O00555-mappedCitation-16043807
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F3028FAD2719575DD05EDE4EC43C2C1379063125CF3859005DC2364011FCDE2B65992DCFA049881E60CBFE80EF3DB06A