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DESCRIBE <http://purl.uniprot.org/SHA-384/AE69A5EA492CA375D8CD3A6C58226C6B686358F06F58A85388C2885D64A5177B16F80D73E14B9A4DED900231743323D3>
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http://purl.uniprot.org/SHA-384/AE69A5EA492CA375D8CD3A6C58226C6B686358F06F58A85388C2885D64A5177B16F80D73E14B9A4DED900231743323D3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/AE69A5EA492CA375D8CD3A6C58226C6B686358F06F58A85388C2885D64A5177B16F80D73E14B9A4DED900231743323D3
http://www.w3.org/2000/01/rdf-schema#comment
"CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders."
xsd:string
http://purl.uniprot.org/uniprot/#_2456F7B33E3983CCB30932A49ADF38B7E0FF3F26FB6B5B0B891E30187F02ED284C8CA3F2FED580026E12E15D894C9F35
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/AE69A5EA492CA375D8CD3A6C58226C6B686358F06F58A85388C2885D64A5177B16F80D73E14B9A4DED900231743323D3
http://purl.uniprot.org/uniprot/E9PDI6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AE69A5EA492CA375D8CD3A6C58226C6B686358F06F58A85388C2885D64A5177B16F80D73E14B9A4DED900231743323D3
http://purl.uniprot.org/uniprot/#_E9PDI6-mappedCitation-33704440
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AE69A5EA492CA375D8CD3A6C58226C6B686358F06F58A85388C2885D64A5177B16F80D73E14B9A4DED900231743323D3