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DESCRIBE <http://purl.uniprot.org/SHA-384/0AB0F2BAC94D57528A34AC9C1E73D0CD874BE8C6FC52D85C89A08CA16F9CAFC8AF69AD6870653E60E424E4D14C34A59B>
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http://purl.uniprot.org/SHA-384/0AB0F2BAC94D57528A34AC9C1E73D0CD874BE8C6FC52D85C89A08CA16F9CAFC8AF69AD6870653E60E424E4D14C34A59B
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0AB0F2BAC94D57528A34AC9C1E73D0CD874BE8C6FC52D85C89A08CA16F9CAFC8AF69AD6870653E60E424E4D14C34A59B
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/#_DBC844BBAA2C9A6A710C61F4365D0B5C73E2CB65F0BDCA34443E206C6BAA0D9D32D461C89F00B762ABAED459BE38D478
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0AB0F2BAC94D57528A34AC9C1E73D0CD874BE8C6FC52D85C89A08CA16F9CAFC8AF69AD6870653E60E424E4D14C34A59B
http://purl.uniprot.org/uniprot/A0A1W2PRA8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0AB0F2BAC94D57528A34AC9C1E73D0CD874BE8C6FC52D85C89A08CA16F9CAFC8AF69AD6870653E60E424E4D14C34A59B
http://purl.uniprot.org/uniprot/#_A0A1W2PRA8-mappedCitation-15918896
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0AB0F2BAC94D57528A34AC9C1E73D0CD874BE8C6FC52D85C89A08CA16F9CAFC8AF69AD6870653E60E424E4D14C34A59B