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DESCRIBE <http://purl.uniprot.org/SHA-384/BA13DD795ED1D14678BEC986291E8DB2AC265000358027542452E1E46CD8A4353D6A917CC97F2381C3D9CB4688F469B7>
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http://purl.uniprot.org/SHA-384/BA13DD795ED1D14678BEC986291E8DB2AC265000358027542452E1E46CD8A4353D6A917CC97F2381C3D9CB4688F469B7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BA13DD795ED1D14678BEC986291E8DB2AC265000358027542452E1E46CD8A4353D6A917CC97F2381C3D9CB4688F469B7
http://www.w3.org/2000/01/rdf-schema#comment
"A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects."
xsd:string
http://purl.uniprot.org/uniprot/#_64592809A50BE3B55794F0C2B5ABD01A6F89E351F0973038A19CBEFD55465C412934E44C2521A54D2B04594B73255EA1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BA13DD795ED1D14678BEC986291E8DB2AC265000358027542452E1E46CD8A4353D6A917CC97F2381C3D9CB4688F469B7
http://purl.uniprot.org/uniprot/O00423
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BA13DD795ED1D14678BEC986291E8DB2AC265000358027542452E1E46CD8A4353D6A917CC97F2381C3D9CB4688F469B7
http://purl.uniprot.org/uniprot/#_O00423-mappedCitation-34211111
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BA13DD795ED1D14678BEC986291E8DB2AC265000358027542452E1E46CD8A4353D6A917CC97F2381C3D9CB4688F469B7