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DESCRIBE <http://purl.uniprot.org/SHA-384/D4AD9AA4B8BA5E693DD29CE57BA8337E6E2262C549904F4A4D3937B53E0A2B35F951A0911D6B7FBB39AD84BB32DC2D01>
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http://purl.uniprot.org/SHA-384/D4AD9AA4B8BA5E693DD29CE57BA8337E6E2262C549904F4A4D3937B53E0A2B35F951A0911D6B7FBB39AD84BB32DC2D01
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D4AD9AA4B8BA5E693DD29CE57BA8337E6E2262C549904F4A4D3937B53E0A2B35F951A0911D6B7FBB39AD84BB32DC2D01
http://www.w3.org/2000/01/rdf-schema#comment
"We have identified mutations in CEP83 another distal appendages component encoding gene as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals."
xsd:string
http://purl.uniprot.org/uniprot/#_4E904332632C48C635F9A81EE0ECAF2F6C7593E4A9257B437947EAF44772C26CF0C9CDAFEE9AD568523BECB5D20B73C9
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D4AD9AA4B8BA5E693DD29CE57BA8337E6E2262C549904F4A4D3937B53E0A2B35F951A0911D6B7FBB39AD84BB32DC2D01
http://purl.uniprot.org/uniprot/F8VYN8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D4AD9AA4B8BA5E693DD29CE57BA8337E6E2262C549904F4A4D3937B53E0A2B35F951A0911D6B7FBB39AD84BB32DC2D01
http://purl.uniprot.org/uniprot/#_F8VYN8-mappedCitation-24882706
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D4AD9AA4B8BA5E693DD29CE57BA8337E6E2262C549904F4A4D3937B53E0A2B35F951A0911D6B7FBB39AD84BB32DC2D01