. . . . . . . . . . . . "[Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2013-07-24"^^ . "2014-10-02T12:32:01+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .