Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.C446*
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THRB

NM_001354712.2:p.C446*

Associated Papers

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

TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.

Vlaeminck-Guillem V et al.

Presse Medicale (paris, France : 1983), 2015

E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement.

Gurgel MH et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

[Pendred's syndrome. Current features].

Wémeau JL et al.

Presse Medicale (paris, France : 1983), 2001

Comparison of the functional properties of three different truncated thyroid hormone receptors identified in subjects with resistance to thyroid hormone.

Miyoshi Y et al.

Molecular and Cellular Endocrinology, 1998

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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."