Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.P449L
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TSHR

NM_000369.5:p.P449L

Associated Papers

The Impact of FSHR Mutations on Female Ovarian Function and Pregnancy Outcomes: A Systematic Review.

Qu Z et al.

Biology of Reproduction, 2025

Thyrotropin Receptor p.N432D Retained Variant Is Degraded Through an Alternative Lysosomal/Autophagosomal Pathway and Can Be Functionally Rescued by Chemical Chaperones.

Grassi ES et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism.

Kollati Y et al.

3 Biotech, 2020

Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.

Lábadi Á et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."