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DESCRIBE <http://purl.uniprot.org/SHA-384/74CDC1649C1C8B6E555B7AB718CCB0BEC64DDA26E4D052107AFF5781830341A43AE774BEE6C20C0F136BAAAD725F79B1>
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http://purl.uniprot.org/SHA-384/74CDC1649C1C8B6E555B7AB718CCB0BEC64DDA26E4D052107AFF5781830341A43AE774BEE6C20C0F136BAAAD725F79B1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/74CDC1649C1C8B6E555B7AB718CCB0BEC64DDA26E4D052107AFF5781830341A43AE774BEE6C20C0F136BAAAD725F79B1
http://www.w3.org/2000/01/rdf-schema#comment
"ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4 LARS2 CLPP and C10orf2"
xsd:string
http://purl.uniprot.org/uniprot/#_918E242B12709FE93E4D40E08EE8D990139C3590C6E562D9BC30310C3BEAA734837446CE0563192177C7ED7A292DE6DA
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/74CDC1649C1C8B6E555B7AB718CCB0BEC64DDA26E4D052107AFF5781830341A43AE774BEE6C20C0F136BAAAD725F79B1
http://purl.uniprot.org/uniprot/B2R659
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/74CDC1649C1C8B6E555B7AB718CCB0BEC64DDA26E4D052107AFF5781830341A43AE774BEE6C20C0F136BAAAD725F79B1
http://purl.uniprot.org/uniprot/#_B2R659-mappedCitation-26970254
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/74CDC1649C1C8B6E555B7AB718CCB0BEC64DDA26E4D052107AFF5781830341A43AE774BEE6C20C0F136BAAAD725F79B1