Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.P48delFs
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TSHR

NM_000369.5:p.P48delFs

Associated Papers

[Pathogenic TSHR variants in children with thyroid dysgenesis].

Shreder EV et al.

Problemy Endokrinologii, 2023

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

Makretskaya N et al.

Plos One, 2018

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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."