Varaico: Literature-Extracted Genetic Variants

Gene:TTF2
Variant:p.K185*
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TTF2

NM_003594.4:p.K185*

Associated Papers

[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].

Matsushita A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

The TSH receptor and its role in thyroid disease.

Kopp P

Cellular and Molecular Life Sciences : Cmls, 2001

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

Abramowicz MJ et al.

The Journal of Clinical Investigation, 1997

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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."