Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.A317V
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THRA

NM_199334.5:p.A317V

Associated Papers

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.

Furman AE et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Resistance to thyroid hormone due to defective thyroid receptor alpha.

Moran C et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2015

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

Moran C et al.

The Lancet. Diabetes & Endocrinology, 2014

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.

Mitchell CS et al.

The Journal of Clinical Investigation, 2010

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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."