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DESCRIBE <http://purl.uniprot.org/SHA-384/FC743245085CCDBD5F80D8790E9410979506BB0F1E4AC45A8D504B9B7BF431D47E03B3CFC7D3830FCDE556CEE03296C8>
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http://purl.uniprot.org/SHA-384/FC743245085CCDBD5F80D8790E9410979506BB0F1E4AC45A8D504B9B7BF431D47E03B3CFC7D3830FCDE556CEE03296C8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FC743245085CCDBD5F80D8790E9410979506BB0F1E4AC45A8D504B9B7BF431D47E03B3CFC7D3830FCDE556CEE03296C8
http://www.w3.org/2000/01/rdf-schema#comment
"Our study strengthens the role of a missense mutation in the CTSK gene in the pathogenesis of pycnodysostosis and suggests its prevalence in Pakistani patients"
xsd:string
http://purl.uniprot.org/uniprot/#_972C70E93E8938E605B52C1265C52F0AB6296808D027098A9BC06547EAE68EA8A357C5BB1D5B64FDABDD2A1BFB8464C5
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FC743245085CCDBD5F80D8790E9410979506BB0F1E4AC45A8D504B9B7BF431D47E03B3CFC7D3830FCDE556CEE03296C8
http://purl.uniprot.org/uniprot/Q2XNE6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FC743245085CCDBD5F80D8790E9410979506BB0F1E4AC45A8D504B9B7BF431D47E03B3CFC7D3830FCDE556CEE03296C8
http://purl.uniprot.org/uniprot/#_Q2XNE6-mappedCitation-19674475
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FC743245085CCDBD5F80D8790E9410979506BB0F1E4AC45A8D504B9B7BF431D47E03B3CFC7D3830FCDE556CEE03296C8