Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.E445*
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THRB

NM_001354712.2:p.E445*

Associated Papers

Truncated variants of thyroid hormone receptor beta display disease-inflicting malfunctioning at cellular level.

Rehman G et al.

Experimental Cell Research, 2024

R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.

Ong JC et al.

Journal of the Asean Federation of Endocrine Societies, 2024

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

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