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DESCRIBE <http://purl.uniprot.org/SHA-384/99B439E0EF45B1514C8BDDC1FFE2544E7150311F234887449BE6998919DFBD5669F24BE62B5B719F2F6C16932D0324BC>
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http://purl.uniprot.org/SHA-384/99B439E0EF45B1514C8BDDC1FFE2544E7150311F234887449BE6998919DFBD5669F24BE62B5B719F2F6C16932D0324BC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/99B439E0EF45B1514C8BDDC1FFE2544E7150311F234887449BE6998919DFBD5669F24BE62B5B719F2F6C16932D0324BC
http://www.w3.org/2000/01/rdf-schema#comment
"Mis-splicing of the GALNS gene resulting from deep intronic mutations has been determined as a cause of Morquio a disease in three unrelated patients."
xsd:string
http://purl.uniprot.org/uniprot/#_8D52E4FDD883CA9A0B864DF82A7AB70CC17B129E2D06D1BCBFAA0EB45A4AED5E608F40C50A475BBEB2949C36EDD00940
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/99B439E0EF45B1514C8BDDC1FFE2544E7150311F234887449BE6998919DFBD5669F24BE62B5B719F2F6C16932D0324BC
http://purl.uniprot.org/uniprot/Q96I49
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/99B439E0EF45B1514C8BDDC1FFE2544E7150311F234887449BE6998919DFBD5669F24BE62B5B719F2F6C16932D0324BC
http://purl.uniprot.org/uniprot/#_Q96I49-mappedCitation-30305043
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/99B439E0EF45B1514C8BDDC1FFE2544E7150311F234887449BE6998919DFBD5669F24BE62B5B719F2F6C16932D0324BC