Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.F451I
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THRB

NM_001354712.2:p.F451I

Associated Papers

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

Cheng JYK et al.

Jcem Case Reports, 2024

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

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Triiodothyronine regulates cell growth and survival in renal cell cancer.

Czarnecka AM et al.

International Journal of Oncology, 2016

Thyroid hormone receptors and cancer.

Kim WG et al.

Biochimica Et Biophysica Acta, 2013

Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone: two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance.

Tsukaguchi H et al.

The Journal of Clinical Endocrinology and Metabolism, 1995

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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."