Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.R528S
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TSHR

NM_000369.5:p.R528S

Associated Papers

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

Zhang RJ et al.

Clinical Endocrinology, 2022

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.

Wang H et al.

Molecular Medicine Reports, 2020

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Sun F et al.

European Journal of Endocrinology, 2018

29650690 (PubMed )
Supplement: eje-178-623-t001.pdf

Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.

Wang F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."