Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.G332R
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THRB

NM_001354712.2:p.G332R

Associated Papers

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

SNP mutations occurring in thyroid hormone receptor influenced individual susceptibility to triiodothyronine: Molecular dynamics and site-directed mutagenesis approaches.

Liu Y et al.

Journal of Cellular Biochemistry, 2018

A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation.

Clifton-Bligh RJ et al.

Molecular Endocrinology (baltimore, Md.), 1998

Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study.

Brucker-Davis F et al.

Annals of Internal Medicine, 1995

Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.

Beck-Peccoz P et al.

Journal of Endocrinological Investigation, 1994

Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK.

Beck-Peccoz P et al.

European Journal of Endocrinology, 1994

Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K.

Beck-Peccoz P et al.

Thyroid : Official Journal of the American Thyroid Association, 1994

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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."