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DESCRIBE <http://purl.uniprot.org/SHA-384/2A7954FC497027DF0E87F730F9BB6F8D2C05D39C274CA60B5B4550BE8BC8223B818697A017AAF1381D65B8AE5B0A6CB7>
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http://purl.uniprot.org/SHA-384/2A7954FC497027DF0E87F730F9BB6F8D2C05D39C274CA60B5B4550BE8BC8223B818697A017AAF1381D65B8AE5B0A6CB7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/2A7954FC497027DF0E87F730F9BB6F8D2C05D39C274CA60B5B4550BE8BC8223B818697A017AAF1381D65B8AE5B0A6CB7
http://www.w3.org/2000/01/rdf-schema#comment
"molecular analysis revealed two novel heterozygous mutations c.636A>C and c.1124G>C in the TH gene"
xsd:string
http://purl.uniprot.org/uniprot/#_885ED97AE6804D79365AFA45E3311186086D318C248D2D06730907E9B97CFF5FEA4B170E33F46B2F62430DF60FB07FA0
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/2A7954FC497027DF0E87F730F9BB6F8D2C05D39C274CA60B5B4550BE8BC8223B818697A017AAF1381D65B8AE5B0A6CB7
http://purl.uniprot.org/uniprot/Q8IZE1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2A7954FC497027DF0E87F730F9BB6F8D2C05D39C274CA60B5B4550BE8BC8223B818697A017AAF1381D65B8AE5B0A6CB7
http://purl.uniprot.org/uniprot/#_Q8IZE1-mappedCitation-22691284
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2A7954FC497027DF0E87F730F9BB6F8D2C05D39C274CA60B5B4550BE8BC8223B818697A017AAF1381D65B8AE5B0A6CB7