Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.G207E
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THRA

NM_199334.5:p.G207E

Associated Papers

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.

Persani L et al.

European Thyroid Journal, 2024

38963712 (PubMed )
Supplement: supplementary_table_1.pdf

What is the Role of Thyroid Hormone Receptor Alpha 2 (TRα2) in Human Physiology?

Paisdzior S et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2022

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

A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.

Paisdzior S et al.

International Journal of Molecular Sciences, 2021

34069457 (PubMed )
Supplement: ijms-22-05338-s001.zip › ijms-1156618-supplementary.pdf

New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA /TRα1.

Sun H et al.

Journal of the Endocrine Society, 2019

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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."