Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.L341P
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THRB

NM_001354712.2:p.L341P

Associated Papers

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Role of Leucine 341 in Thyroid Hormone Receptor Beta Revealed by a Novel Mutation Causing Thyroid Hormone Resistance.

Wejaphikul K et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

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."