Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.L440P
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THRB

NM_001354712.2:p.L440P

Associated Papers

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Biochemical characterization of four novel mutations in the thyroid hormone receptor beta gene in patients with resistance to thyroid hormone.

Asadi AB et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2008

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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."