Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.I640L
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TSHR

NM_000369.5:p.I640L

Associated Papers

A frequent oligogenic involvement in congenital hypothyroidism.

de Filippis T et al.

Human Molecular Genetics, 2017

Contacts between extracellular loop two and transmembrane helix six determine basal activity of the thyroid-stimulating hormone receptor.

Kleinau G et al.

The Journal of Biological Chemistry, 2007

[Malignant hyperthermia (MH)].

Hata T

Ryoikibetsu Shokogun Shirizu, 1996

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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."