Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.P453L
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THRB

NM_001354712.2:p.P453L

Associated Papers

A rare mutation in THRB gene of resistance to thyroid hormone: a case report of a Chinese pedigree.

Guo J et al.

Qjm : Monthly Journal of the Association of Physicians, 2024

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Coexistence of THRB and TBG gene mutations in a Turkish family.

Ferrara AM et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH).

Chiesa A et al.

Endocrine, 2012

Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.

Rivolta CM et al.

Molecular and Cellular Probes, 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."