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[A623F and I635V are two naturally occurring TSH receptor mutations that increase basal cAMP accumulation and consequently promote the development of toxic follicular thyroid adenoma. cAMP response to increasing TSH dose is retained by A623F and I635V mutated receptors and the maximal stimulation obtained is not different from that of the wild-type receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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Gene-disease associations inferred from text-mining the literature.
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