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DESCRIBE <http://purl.uniprot.org/SHA-384/6E517444EEBAF1F1544405FB41498A10575379D9A63BF4905159D5334642008F642F1D4C30CF0CF60053FBCE42F77E2F>
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http://purl.uniprot.org/SHA-384/6E517444EEBAF1F1544405FB41498A10575379D9A63BF4905159D5334642008F642F1D4C30CF0CF60053FBCE42F77E2F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6E517444EEBAF1F1544405FB41498A10575379D9A63BF4905159D5334642008F642F1D4C30CF0CF60053FBCE42F77E2F
http://www.w3.org/2000/01/rdf-schema#comment
"A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis."
xsd:string
http://purl.uniprot.org/uniprot/#_A010AC2DD3B140C18CBC000BEDA9955BF2EAD92EFCB1C71F40F0495969596F12689291D28F1B6159972FF85BEFD46833
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6E517444EEBAF1F1544405FB41498A10575379D9A63BF4905159D5334642008F642F1D4C30CF0CF60053FBCE42F77E2F
http://purl.uniprot.org/uniprot/Q66SS1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6E517444EEBAF1F1544405FB41498A10575379D9A63BF4905159D5334642008F642F1D4C30CF0CF60053FBCE42F77E2F
http://purl.uniprot.org/uniprot/#_Q66SS1-mappedCitation-37553561
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6E517444EEBAF1F1544405FB41498A10575379D9A63BF4905159D5334642008F642F1D4C30CF0CF60053FBCE42F77E2F