Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.Y613C
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TSHR

NM_000369.5:p.Y613C

Associated Papers

Predicting Pathogenicity of TSHR Missense Variants of Uncertain Significance: An Integrative Computational Study.

Hajali TA et al.

International Journal of Molecular Sciences, 2026

41684033 (PubMed )
Supplement: ijms-27-01614-s001.zip › ijms-4117947-supplementary.pdf

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

Zhang HY et al.

Annals of Laboratory Medicine, 2024

A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Wang X et al.

Haematologica, 2022

35142151 (PubMed )
Supplement: 2021_279908_WANG_TABS3.xlsx › PCNSL

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

Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.

Xue P et al.

International Journal of General Medicine, 2021

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

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.

Long W et al.

Endocrine Journal, 2018

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

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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."