PubMed:20534762 / 267-522 JSONTXT

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{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T2","span":{"begin":188,"end":195},"obj":"http://purl.obolibrary.org/obo/UBERON_0012131"}],"text":"Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital central hypothyroidism and conventional treatment-resistant anemia."}