Varaico: Literature-Extracted Genetic Variants

Gene:TSHB
Variant:p.C105fs
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TSHB

NM_000549.5:p.C105fs

Associated Papers

The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.

Kalveram L et al.

International Journal of Molecular Sciences, 2019

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene.

Grünert SC et al.

Case Reports in Pediatrics, 2011

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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."