Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.R438fs
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THRB

NM_001354712.2:p.R438fs

Associated Papers

E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement.

Gurgel MH et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant.

Phillips SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."