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DESCRIBE <http://purl.uniprot.org/SHA-384/F8ACC117559CCB6309D22B476BB9379ECFD1E4EC9E314054BE5155243EFFD52AA073A25907DD44FD1766A2EF611252C3>
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http://purl.uniprot.org/SHA-384/F8ACC117559CCB6309D22B476BB9379ECFD1E4EC9E314054BE5155243EFFD52AA073A25907DD44FD1766A2EF611252C3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/F8ACC117559CCB6309D22B476BB9379ECFD1E4EC9E314054BE5155243EFFD52AA073A25907DD44FD1766A2EF611252C3
http://www.w3.org/2000/01/rdf-schema#comment
"Mevalonate kinase deficiency (MKD) can be associated with retinitis pigmentosa (RP) and early onset cataract. Most MKD patients developing RP carry the (p.Ala334Thr) mutation."
xsd:string
http://purl.uniprot.org/uniprot/#_EE30921CD5691BCC8DAD3281032CF7961FAD84E3CDE7E3A71888F7AFA42AA40D58C49D586BFB540EC355C2A32638C62F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/F8ACC117559CCB6309D22B476BB9379ECFD1E4EC9E314054BE5155243EFFD52AA073A25907DD44FD1766A2EF611252C3
http://purl.uniprot.org/uniprot/Q59ET9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F8ACC117559CCB6309D22B476BB9379ECFD1E4EC9E314054BE5155243EFFD52AA073A25907DD44FD1766A2EF611252C3
http://purl.uniprot.org/uniprot/#_Q59ET9-mappedCitation-28095071
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F8ACC117559CCB6309D22B476BB9379ECFD1E4EC9E314054BE5155243EFFD52AA073A25907DD44FD1766A2EF611252C3