Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.C446S
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THRB

NM_001354712.2:p.C446S

Associated Papers

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

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

[Resistance to thyroid hormone syndrome due to p.Cys446Ser variant of THRbeta gene in a pedigree].

Sun S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

Resistance to thyroid hormone caused by a mutation of the thyroid β receptor gene in a family over three generations.

Chen L et al.

Endokrynologia Polska, 2021

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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."