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DESCRIBE <http://purl.uniprot.org/SHA-384/C12BD1F92DA2EAB739596B85A809F82249AF05950DE2A873AF087807AA0182B0BE64B4751EC5C7A6E6BC5513A23FA55D>
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http://purl.uniprot.org/SHA-384/C12BD1F92DA2EAB739596B85A809F82249AF05950DE2A873AF087807AA0182B0BE64B4751EC5C7A6E6BC5513A23FA55D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C12BD1F92DA2EAB739596B85A809F82249AF05950DE2A873AF087807AA0182B0BE64B4751EC5C7A6E6BC5513A23FA55D
http://www.w3.org/2000/01/rdf-schema#comment
"A new c.597C>A transversion in exon 8 of CLN3 gene homozygous in all affected family members and not present in 200 alleles of normal controls is reported."
xsd:string
http://purl.uniprot.org/uniprot/#_D850E1E03188C019562EBC83ABBCB64B11ACA4C424F04D1F1549A345D9560AA8C50E0DA56755CA35C259343C27AACD60
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C12BD1F92DA2EAB739596B85A809F82249AF05950DE2A873AF087807AA0182B0BE64B4751EC5C7A6E6BC5513A23FA55D
http://purl.uniprot.org/uniprot/O95091
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C12BD1F92DA2EAB739596B85A809F82249AF05950DE2A873AF087807AA0182B0BE64B4751EC5C7A6E6BC5513A23FA55D
http://purl.uniprot.org/uniprot/#_O95091-mappedCitation-19489875
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C12BD1F92DA2EAB739596B85A809F82249AF05950DE2A873AF087807AA0182B0BE64B4751EC5C7A6E6BC5513A23FA55D