Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.E311K
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THRB

NM_001354712.2:p.E311K

Associated Papers

Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone.

Okazaki-Hada M et al.

European Journal of Endocrinology, 2021

An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.

Tagami T

Endocrine Journal, 2021

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait.

Slezak R et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2012

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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."