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DESCRIBE <http://purl.uniprot.org/SHA-384/FC5965F7FCF887E0A67D499CAA055DE132B40916A14D9313A3DA93EB154C47A3BFADD78D187BC7C05CC2CC3221C6FFA2>
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http://purl.uniprot.org/SHA-384/FC5965F7FCF887E0A67D499CAA055DE132B40916A14D9313A3DA93EB154C47A3BFADD78D187BC7C05CC2CC3221C6FFA2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FC5965F7FCF887E0A67D499CAA055DE132B40916A14D9313A3DA93EB154C47A3BFADD78D187BC7C05CC2CC3221C6FFA2
http://www.w3.org/2000/01/rdf-schema#comment
"The mutation c.797_814del p.Ser266_Ala271del is a novel mutation in the conserved DNA-binding OAR domain of PITX3 that causes congenital cataract."
xsd:string
http://purl.uniprot.org/uniprot/#_EAF62F6D89346874BEFCB9FEE31C866C456DC0EA8B6FF9635E831CCFED1E4DFE4E39FBA05B889C91D9E86B0A035D971B
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FC5965F7FCF887E0A67D499CAA055DE132B40916A14D9313A3DA93EB154C47A3BFADD78D187BC7C05CC2CC3221C6FFA2
http://purl.uniprot.org/uniprot/O75364
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FC5965F7FCF887E0A67D499CAA055DE132B40916A14D9313A3DA93EB154C47A3BFADD78D187BC7C05CC2CC3221C6FFA2
http://purl.uniprot.org/uniprot/#_O75364-mappedCitation-30894134
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FC5965F7FCF887E0A67D499CAA055DE132B40916A14D9313A3DA93EB154C47A3BFADD78D187BC7C05CC2CC3221C6FFA2