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DESCRIBE <http://purl.uniprot.org/SHA-384/758FC0D1ED3450ED93FC4B3E7501E2D281758EA37655EED6667DF0604C188A078EA0656D7FF9996F93F73130CAB9AD4E>
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http://purl.uniprot.org/SHA-384/758FC0D1ED3450ED93FC4B3E7501E2D281758EA37655EED6667DF0604C188A078EA0656D7FF9996F93F73130CAB9AD4E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/758FC0D1ED3450ED93FC4B3E7501E2D281758EA37655EED6667DF0604C188A078EA0656D7FF9996F93F73130CAB9AD4E
http://www.w3.org/2000/01/rdf-schema#comment
"Seven novel germline recessive mutations in CPLANE1 including missense nonsense frameshift and canonical splice site variants were identified in OFD6 patients."
xsd:string
http://purl.uniprot.org/uniprot/#_B9B57007DA9D7954478B15438E5217F5E77B6C330C4A1531AD9F65EE1F84A2CC4E0557484770F0196DA4181626332408
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/758FC0D1ED3450ED93FC4B3E7501E2D281758EA37655EED6667DF0604C188A078EA0656D7FF9996F93F73130CAB9AD4E
http://purl.uniprot.org/uniprot/Q9H799
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/758FC0D1ED3450ED93FC4B3E7501E2D281758EA37655EED6667DF0604C188A078EA0656D7FF9996F93F73130CAB9AD4E
http://purl.uniprot.org/uniprot/#_Q9H799-mappedCitation-29605658
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/758FC0D1ED3450ED93FC4B3E7501E2D281758EA37655EED6667DF0604C188A078EA0656D7FF9996F93F73130CAB9AD4E