Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.I431V
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THRB

NM_001354712.2:p.I431V

Associated Papers

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome.

Ferreira Azevedo M et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

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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."