Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.A705fs
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TSHR

NM_000369.5:p.A705fs

Associated Papers

Clinical and Genetic Characteristics of Adult Nonautoimmune Hypothyroidism: A Single-institution Study.

Sugisawa C et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron.

Sugisawa C et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.

Abe K et al.

European Journal of Endocrinology, 2018

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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."