Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.E457K
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THRB

NM_001354712.2:p.E457K

Associated Papers

Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor-beta gene (THRB, GLU457LYS) treated with methimazole.

Rezgani I et al.

Clinical Case Reports, 2022

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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."