Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.C636S
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TSHR

NM_000369.5:p.C636S

Associated Papers

New pathogenic thyrotropin receptor mutations decipher differentiated activity switching at a conserved helix 6 motif of family A GPCR.

Biebermann H et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.

Shenker A

Receptors & Channels, 2002

Thyrotropin receptor mutations as a tool to understand thyrotropin receptor action.

Wonerow P et al.

Journal of Molecular Medicine (berlin, Germany), 2001

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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."