Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.P162S
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TSHR

NM_000369.5:p.P162S

Associated Papers

Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism.

Nadeali Z et al.

Frontiers in Endocrinology, 2025

Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.

Vigone MC et al.

Clinical Endocrinology, 2017

rs3827440, a nonsynonymous single nucleotide polymorphism within GPR174 gene in X chromosome, is associated with Graves' disease in Polish Caucasian population.

Szymański K et al.

Tissue Antigens, 2014

Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.

Da DZ et al.

Inquiry : a Journal of Medical Care Organization, Provision and Financing, 0

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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."