Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.F451L
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THRB

NM_001354712.2:p.F451L

Associated Papers

THRB Gene Mosaicism Confirmed by Next-Generation Sequencing in a Clinically Symptomatic Infant.

Cheng JYK et al.

Jcem Case Reports, 2024

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

Ohba K et al.

Endocrine Journal, 2022

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

Tagami T

Endocrine Journal, 2021

Thyroid hormone resistance from newborns to adults: a Spanish experience.

Vela A et al.

Journal of Endocrinological Investigation, 2019

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone.

Amor AJ et al.

Hormones (athens, Greece), 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."