Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.T327I
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THRB

NM_001354712.2:p.T327I

Associated Papers

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.

Choi JH et al.

Hormone Research in Paediatrics, 2018

Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene.

Lee JH et al.

Annals of Pediatric Endocrinology & Metabolism, 2014

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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."