Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.C636F
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TSHR

NM_000369.5:p.C636F

Associated Papers

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Yan J et al.

Journal of Human Genetics, 2013

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."