Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.F459L
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THRB

NM_001354712.2:p.F459L

Associated Papers

A Novel THRβ Variant in a Child With Resistance to Thyroid Hormone β: Diagnostic and Therapeutic Challenges.

Gürpınar G et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Thyroid Hormone Resistance: A Case Report of a Novel Missense Thyroid Hormone Receptor (THR) Mutation.

Nahar ML et al.

Cureus, 2025

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Novel Mutation (T273R) in Thyroid Hormone Receptor β Gene Provides Further Insight into Cryptic Negative Regulation by Thyroid Hormone.

Kaššák F et al.

Folia Biologica, 2017

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.

Mitchell CS et al.

The Journal of Clinical Investigation, 2010

Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone.

Amor AJ et al.

Hormones (athens, Greece), 0

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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."