Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.A526T
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TSHR

NM_000369.5:p.A526T

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.

Zhang HY et al.

Annals of Laboratory Medicine, 2024

Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.

Yang R et al.

Frontiers in Genetics, 2021

34456971 (PubMed )
Supplement: Data_Sheet_2.PDF

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 analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

Fu C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

Hu X et al.

Molecular and Cellular Endocrinology, 2016

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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."