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DESCRIBE <http://purl.uniprot.org/SHA-384/894AB6A1B87839B9158CE0C4CBF9246F862C7E83FDC8AC096BF417D55EBE32E6626EFB5ECD95AC35E57C31D1D7F6E7E9>
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http://purl.uniprot.org/SHA-384/894AB6A1B87839B9158CE0C4CBF9246F862C7E83FDC8AC096BF417D55EBE32E6626EFB5ECD95AC35E57C31D1D7F6E7E9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/894AB6A1B87839B9158CE0C4CBF9246F862C7E83FDC8AC096BF417D55EBE32E6626EFB5ECD95AC35E57C31D1D7F6E7E9
http://www.w3.org/2000/01/rdf-schema#comment
"The consistent association of truncating mutations with the aniridia phenotype and the distribution of truncating mutations in the PAX6 open reading frame suggests that nonsense-mediated decay acts on PAX6 mutant alleles"
xsd:string
http://purl.uniprot.org/uniprot/#_5968DFB71324483124A11FE7ABAD05F92944A175391897905DB647A6F48E3B18B335ED4758E80EE6D44E423E0D6FC265
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/894AB6A1B87839B9158CE0C4CBF9246F862C7E83FDC8AC096BF417D55EBE32E6626EFB5ECD95AC35E57C31D1D7F6E7E9
http://purl.uniprot.org/uniprot/D1KF47
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/894AB6A1B87839B9158CE0C4CBF9246F862C7E83FDC8AC096BF417D55EBE32E6626EFB5ECD95AC35E57C31D1D7F6E7E9
http://purl.uniprot.org/uniprot/#_D1KF47-mappedCitation-15918896
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/894AB6A1B87839B9158CE0C4CBF9246F862C7E83FDC8AC096BF417D55EBE32E6626EFB5ECD95AC35E57C31D1D7F6E7E9