Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.V414M
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THRB

NM_001354712.2:p.V414M

Associated Papers

Resistance to Thyroid Hormone Beta: A Focused Review.

Pappa T et al.

Frontiers in Endocrinology, 2021

A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.

Korwutthikulrangsri M et al.

European Thyroid Journal, 2019

Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.

Hayashi Y et al.

The Journal of Clinical Investigation, 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."