Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.L454V
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THRB

NM_001354712.2:p.L454V

Associated Papers

Resistance to Thyroid Hormone Beta: A Focused Review.

Pappa T et al.

Frontiers in Endocrinology, 2021

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone.

Rivolta CM et al.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004

A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.

Rivolta CM et al.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004

Molecular basis of resistance to thyroid hormone (RTH).

Nagaya T et al.

Endocrine Journal, 1998

A novel natural mutation in the thyroid hormone receptor defines a dual functional domain that exchanges nuclear receptor corepressors and coactivators.

Tagami T et al.

Molecular Endocrinology (baltimore, Md.), 1998

[Thyroid hormone receptors and the disorders].

Nagaya T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998

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

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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."