Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.M442T
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THRB

NM_001354712.2:p.M442T

Associated Papers

Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment.

Oliveira AMS et al.

Archives of Endocrinology and Metabolism, 2025

Update on resistance to thyroid hormone syndromeβ.

Sun H et al.

Italian Journal of Pediatrics, 2020

Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene: A pedigree report.

Yusufu A et al.

Medicine, 2020

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.

Ramos LS et al.

Endocrine, 2018

Pathogenic mechanism of mutations in the thyroid hormone receptor β gene.

Pongjantarasatian S et al.

Journal of Endocrinological Investigation, 2012

Genetic features of thyroid hormone receptors.

Rebaï M et al.

Journal of Genetics, 2012

Biochemical characterization of four novel mutations in the thyroid hormone receptor beta gene in patients with resistance to thyroid hormone.

Asadi AB et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2008

The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: a case report.

Bayer Y et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2004

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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."