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DESCRIBE <http://purl.uniprot.org/SHA-384/98E0B239664A1B9C7EA2CC14E5A16E64A189F5EAB6DE3909AF5EC97E990D88E349B1323A766142FA1B7A69A4F38C56D0>
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http://purl.uniprot.org/SHA-384/98E0B239664A1B9C7EA2CC14E5A16E64A189F5EAB6DE3909AF5EC97E990D88E349B1323A766142FA1B7A69A4F38C56D0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/98E0B239664A1B9C7EA2CC14E5A16E64A189F5EAB6DE3909AF5EC97E990D88E349B1323A766142FA1B7A69A4F38C56D0
http://www.w3.org/2000/01/rdf-schema#comment
"we described five individuals from a large consanguineous Turkish family with MLIIIalpha/beta and identified a novel homozygous missense genetic variant in the alpha subunit of GNPTAB gene in five patients"
xsd:string
http://purl.uniprot.org/uniprot/#_5F8A25BD4DB468817870F7F5E68855E6163036A1FBC2B4E48D0020169884112DD60B9A2B6A043F83BE0ACBBC48B60DAA
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/98E0B239664A1B9C7EA2CC14E5A16E64A189F5EAB6DE3909AF5EC97E990D88E349B1323A766142FA1B7A69A4F38C56D0
http://purl.uniprot.org/uniprot/Q9BUA5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/98E0B239664A1B9C7EA2CC14E5A16E64A189F5EAB6DE3909AF5EC97E990D88E349B1323A766142FA1B7A69A4F38C56D0
http://purl.uniprot.org/uniprot/#_Q9BUA5-mappedCitation-26749367
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/98E0B239664A1B9C7EA2CC14E5A16E64A189F5EAB6DE3909AF5EC97E990D88E349B1323A766142FA1B7A69A4F38C56D0