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DESCRIBE <http://purl.uniprot.org/SHA-384/5F59B3119E717476D2471AC7E2FCB94803FDB7DA4661A858BC54A8EC1A43E70FF8BB8B9B716F04F70EC0921A45CB0D33>
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http://purl.uniprot.org/SHA-384/5F59B3119E717476D2471AC7E2FCB94803FDB7DA4661A858BC54A8EC1A43E70FF8BB8B9B716F04F70EC0921A45CB0D33
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5F59B3119E717476D2471AC7E2FCB94803FDB7DA4661A858BC54A8EC1A43E70FF8BB8B9B716F04F70EC0921A45CB0D33
http://www.w3.org/2000/01/rdf-schema#comment
"This article confirms in silico predictions of aberrant splicing in the EPG5 gene due to the mutation NM_020964.2; c.1007A>G p.Gln336Arg"
xsd:string
http://purl.uniprot.org/uniprot/#_AE6A080434DF4C33AC120F2F6B9838EE5D97EF8892941C004F006B238DC4BFA7EE039E5477957A441E622CB5F10455C0
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5F59B3119E717476D2471AC7E2FCB94803FDB7DA4661A858BC54A8EC1A43E70FF8BB8B9B716F04F70EC0921A45CB0D33
http://purl.uniprot.org/uniprot/Q9BTI0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5F59B3119E717476D2471AC7E2FCB94803FDB7DA4661A858BC54A8EC1A43E70FF8BB8B9B716F04F70EC0921A45CB0D33
http://purl.uniprot.org/uniprot/#_Q9BTI0-mappedCitation-27343256
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5F59B3119E717476D2471AC7E2FCB94803FDB7DA4661A858BC54A8EC1A43E70FF8BB8B9B716F04F70EC0921A45CB0D33