Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.P452L
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THRB

NM_001354712.2:p.P452L

Associated Papers

Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma-two case reports of a thyroid hormone receptor beta gene mutation and a literature review.

Fang Y et al.

Frontiers in Genetics, 2022

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

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

Coexistence of resistance to thyroid hormone and papillary thyroid carcinoma.

Igata M et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2016

[Polymorphisms of PPARs and metabolic disorders].

Araki E et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2005

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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."