Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.S268_F269insFs
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TSHR

NM_000369.5:p.S268_F269insFs

Associated Papers

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

Tao YX

Pharmacology & Therapeutics, 2006

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

Biebermann H et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

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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."