Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.L330S
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THRB

NM_001354712.2:p.L330S

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

Clinical outcomes of 34 patients with resistance to thyroid hormone beta: a twenty-year experience in Japan.

Ohba K et al.

Endocrine Journal, 2022

An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.

Tagami T

Endocrine Journal, 2021

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

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

Pongjantarasatian S et al.

Journal of Endocrinological Investigation, 2012

Thyroid hormone resistance: the role of mutational analysis.

Florkowski CM et al.

Internal Medicine Journal, 2006

A de novo L330S point mutation in thyroid hormone receptor beta gene in a Thai female with resistance to thyroid hormone.

Ditudompo S et al.

Endocrine Journal, 1999

Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene.

Pohlenz J et al.

Thyroid : Official Journal of the American Thyroid Association, 1997

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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."