Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.M453V
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TSHR

NM_000369.5:p.M453V

Associated Papers

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

Yamichannaiah C et al.

Clinical Endocrinology, 2025

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.

Makkonen K et al.

Jci Insight, 2024

38194289 (PubMed )
Supplement: jciinsight-9-167092-s023.xlsx › Fig._3D

Report of a family with three generations of undiagnosed familial nonautoimmune hyperthyroidism.

Stephenson A et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2021

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

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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."