Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.G344A
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THRB

NM_001354712.2:p.G344A

Associated Papers

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

Genetic features of thyroid hormone receptors.

Rebaï M et al.

Journal of Genetics, 2012

Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation.

Kvistad PH et al.

European Journal of Endocrinology, 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."