Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.G294Splc
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TSHR

NM_000369.5:p.G294Splc

Associated Papers

[Non-immune thyrotoxicosis caused by thyroid-stimulating hormone receptor activating gene mutation (the first description in Russia)].

Peterkova VA et al.

Problemy Endokrinologii, 2009

[Clinical and molecular genetic verification of Frasers syndrome, false male hermaphroditism and chronic glomerulonephritis (the first description in Russia)].

Novikova EO et al.

Problemy Endokrinologii, 2009

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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."