Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.K42insFs
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TSHR

NM_000369.5:p.K42insFs

Associated Papers

Genetics and phenomics of hypothyroidism due to TSH resistance.

Persani L et al.

Molecular and Cellular Endocrinology, 2010

Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved.

Rapa A et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.

Kanda K et al.

Endocrine, 2006

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.

Camilot M et al.

Clinical Endocrinology, 2005

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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."