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DESCRIBE <http://purl.uniprot.org/SHA-384/A60D99AE3AC44FF8F0109CC877B1EBDE13A39993EC4E3BEB4A47DB095A2AB9B61B8D1D80F3AE6B2629D5A91E96E07C1B>
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http://purl.uniprot.org/SHA-384/A60D99AE3AC44FF8F0109CC877B1EBDE13A39993EC4E3BEB4A47DB095A2AB9B61B8D1D80F3AE6B2629D5A91E96E07C1B
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A60D99AE3AC44FF8F0109CC877B1EBDE13A39993EC4E3BEB4A47DB095A2AB9B61B8D1D80F3AE6B2629D5A91E96E07C1B
http://www.w3.org/2000/01/rdf-schema#comment
"The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies Coffin-Lowry syndrome in this Chinese pedigree."
xsd:string
http://purl.uniprot.org/uniprot/#_2C48E4B4B059EAC5F3E989A07E7E02D00A84343C8F3D9776BBB64314623346B835C02F02F11887EBBC3C423606B73AB6
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/A60D99AE3AC44FF8F0109CC877B1EBDE13A39993EC4E3BEB4A47DB095A2AB9B61B8D1D80F3AE6B2629D5A91E96E07C1B
http://purl.uniprot.org/uniprot/B1AXG1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A60D99AE3AC44FF8F0109CC877B1EBDE13A39993EC4E3BEB4A47DB095A2AB9B61B8D1D80F3AE6B2629D5A91E96E07C1B
http://purl.uniprot.org/uniprot/#_B1AXG1-mappedCitation-31400131
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A60D99AE3AC44FF8F0109CC877B1EBDE13A39993EC4E3BEB4A47DB095A2AB9B61B8D1D80F3AE6B2629D5A91E96E07C1B