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DESCRIBE <http://purl.uniprot.org/SHA-384/3F0D9504C95C3EC5B5491EE5CD994D03EA35ED9F75661799E80A46EA4B272170F6405A5B4CE6ABACD96A37514BFEE0D1>
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http://purl.uniprot.org/SHA-384/3F0D9504C95C3EC5B5491EE5CD994D03EA35ED9F75661799E80A46EA4B272170F6405A5B4CE6ABACD96A37514BFEE0D1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3F0D9504C95C3EC5B5491EE5CD994D03EA35ED9F75661799E80A46EA4B272170F6405A5B4CE6ABACD96A37514BFEE0D1
http://www.w3.org/2000/01/rdf-schema#comment
"analysis of the recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the TG gene in two unrelated families (one Argentinian and another Brazilian) with congenital hypothyroidism goiter and impairment of TG synthesis"
xsd:string
http://purl.uniprot.org/uniprot/#_4B4CBA482FCEC3B3D752AF7B975BBD245C476EC580FA95CD51AA0C22EA53EC1082E68A0E2657FEAC217918A648E44DB2
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3F0D9504C95C3EC5B5491EE5CD994D03EA35ED9F75661799E80A46EA4B272170F6405A5B4CE6ABACD96A37514BFEE0D1
http://purl.uniprot.org/uniprot/B2RU26
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3F0D9504C95C3EC5B5491EE5CD994D03EA35ED9F75661799E80A46EA4B272170F6405A5B4CE6ABACD96A37514BFEE0D1
http://purl.uniprot.org/uniprot/#_B2RU26-mappedCitation-17911408
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3F0D9504C95C3EC5B5491EE5CD994D03EA35ED9F75661799E80A46EA4B272170F6405A5B4CE6ABACD96A37514BFEE0D1