Varaico: Literature-Extracted Genetic Variants

Gene:BRD1
Variant:p.M185L
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BRD1

NM_001304808.3:p.M185L

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

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."