Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.L346V
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THRB

NM_001354712.2:p.L346V

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 family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH.

Ueda Y et al.

Endocrine Journal, 2015

Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor beta gene in a family with generalized thyroid hormone resistance.

Macchia E et al.

European Journal of Endocrinology, 1997

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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."