Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R338W
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TPO

NM_001206744.2:p.R338W

Associated Papers

Clinical outcomes of 34 patients with resistance to thyroid hormone beta: a twenty-year experience in Japan.

Ohba K et al.

Endocrine Journal, 2022

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

Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.

Ramos LS et al.

Endocrine, 2018

Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.

Larsen CC et al.

Thyroid : Official Journal of the American Thyroid Association, 2013

One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction.

Narumi S et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2010

[Resistance to thyroid hormone and Hashimoto's thyroiditis].

Guerra-Argüero LM et al.

Cirugia Y Cirujanos, 0

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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."