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DESCRIBE <http://purl.uniprot.org/SHA-384/C1FF6C0B6E2AD34573A481C16D4E1917B7AA9C899D30145C44F452B50C72DD8585935F2DA24D3FA374AA6A69534D7DB7>
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http://purl.uniprot.org/SHA-384/C1FF6C0B6E2AD34573A481C16D4E1917B7AA9C899D30145C44F452B50C72DD8585935F2DA24D3FA374AA6A69534D7DB7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C1FF6C0B6E2AD34573A481C16D4E1917B7AA9C899D30145C44F452B50C72DD8585935F2DA24D3FA374AA6A69534D7DB7
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/#_EE2561D8773207762E049CA89A82FC17438212D7BB80D6447E94915E98B572A3184513EC43943CFC7F2805FBCC325368
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C1FF6C0B6E2AD34573A481C16D4E1917B7AA9C899D30145C44F452B50C72DD8585935F2DA24D3FA374AA6A69534D7DB7
http://purl.uniprot.org/uniprot/Q8N401
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C1FF6C0B6E2AD34573A481C16D4E1917B7AA9C899D30145C44F452B50C72DD8585935F2DA24D3FA374AA6A69534D7DB7
http://purl.uniprot.org/uniprot/#_Q8N401-mappedCitation-27343256
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C1FF6C0B6E2AD34573A481C16D4E1917B7AA9C899D30145C44F452B50C72DD8585935F2DA24D3FA374AA6A69534D7DB7