Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.S350L
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THRB

NM_001354712.2:p.S350L

Associated Papers

Thyroid hormone resistance from newborns to adults: a Spanish experience.

Vela A et al.

Journal of Endocrinological Investigation, 2019

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Computer modeling of a newly identified THRB gene mutation (S350L) associated with resistance to thyroid hormone in three unrelated patients.

Nagavalli S et al.

Thyroid : Official Journal of the American Thyroid Association, 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."