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DESCRIBE <http://purl.uniprot.org/SHA-384/8633A3A6C9FF98DABEE1F1FA3D8E7968BFA264344BAF44E9C44B259FEB730D3CB1D9A8264D0815B413CFF2CD14C9F2C9>
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http://purl.uniprot.org/SHA-384/8633A3A6C9FF98DABEE1F1FA3D8E7968BFA264344BAF44E9C44B259FEB730D3CB1D9A8264D0815B413CFF2CD14C9F2C9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8633A3A6C9FF98DABEE1F1FA3D8E7968BFA264344BAF44E9C44B259FEB730D3CB1D9A8264D0815B413CFF2CD14C9F2C9
http://www.w3.org/2000/01/rdf-schema#comment
"The chromosomal deletion 6p22.3 could result in the aberrant activation and mis-expression of ID4 in the limb bud thereby causing mesomelic dysplasia Savarirayan type."
xsd:string
http://purl.uniprot.org/uniprot/#_E7E4B18B919222F058E34480934E3B452489D74A4DAEC9F7DC58BE0ED5F9FA2C5613F744EEF03D5E949082A518381E71
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8633A3A6C9FF98DABEE1F1FA3D8E7968BFA264344BAF44E9C44B259FEB730D3CB1D9A8264D0815B413CFF2CD14C9F2C9
http://purl.uniprot.org/uniprot/P47928
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8633A3A6C9FF98DABEE1F1FA3D8E7968BFA264344BAF44E9C44B259FEB730D3CB1D9A8264D0815B413CFF2CD14C9F2C9
http://purl.uniprot.org/uniprot/#_P47928-mappedCitation-26032025
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8633A3A6C9FF98DABEE1F1FA3D8E7968BFA264344BAF44E9C44B259FEB730D3CB1D9A8264D0815B413CFF2CD14C9F2C9