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DESCRIBE <http://purl.uniprot.org/SHA-384/E31E47F9580FEC90732F7C66E41B001AC4D33A0E1393BD1F9109E4E7B4DA78374C4E1B9E30FCDA9549B1232038B80812>
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http://purl.uniprot.org/SHA-384/E31E47F9580FEC90732F7C66E41B001AC4D33A0E1393BD1F9109E4E7B4DA78374C4E1B9E30FCDA9549B1232038B80812
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E31E47F9580FEC90732F7C66E41B001AC4D33A0E1393BD1F9109E4E7B4DA78374C4E1B9E30FCDA9549B1232038B80812
http://www.w3.org/2000/01/rdf-schema#comment
"De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities."
xsd:string
http://purl.uniprot.org/uniprot/#_DEC3F5CECFDC19F38B69DB5C45A13B61B05A004B8C5B8ED08BD5EECAED143DE7227B06EFE7B953C952028A8E556270FE
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E31E47F9580FEC90732F7C66E41B001AC4D33A0E1393BD1F9109E4E7B4DA78374C4E1B9E30FCDA9549B1232038B80812
http://purl.uniprot.org/uniprot/Q6PGA5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E31E47F9580FEC90732F7C66E41B001AC4D33A0E1393BD1F9109E4E7B4DA78374C4E1B9E30FCDA9549B1232038B80812
http://purl.uniprot.org/uniprot/#_Q6PGA5-mappedCitation-36536096
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E31E47F9580FEC90732F7C66E41B001AC4D33A0E1393BD1F9109E4E7B4DA78374C4E1B9E30FCDA9549B1232038B80812