Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.R320P
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THRB

NM_001354712.2:p.R320P

Associated Papers

Effects of Resmetirom on Resistance to Thyroid Hormone Receptor Mutants: Potential Basis for Therapeutic Applications.

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation.

Lai HP et al.

International Journal of Molecular Sciences, 2022

Resistance to Thyroid Hormones: A Case-Series Study.

Cannarella R et al.

International Journal of Molecular Sciences, 2022

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone.

Kimura T et al.

Case Reports in Endocrinology, 2018

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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."