Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.C636R
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TSHR

NM_000369.5:p.C636R

Associated Papers

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.

Larsen CC et al.

International Journal of Pediatric Endocrinology, 2014

25873976 (PubMed )
Supplement: 13633_2014_366_MOESM2_ESM.docx

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

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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."