Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.M453R
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TSHR

NM_000369.5:p.M453R

Associated Papers

Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.

Yamichannaiah C et al.

Clinical Endocrinology, 2025

Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene.

Malej A et al.

Balkan Journal of Medical Genetics : Bjmg, 2020

The Thyrotropin Receptor Mutation Database Update.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation.

Nakamura A et al.

Pediatric Research, 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."