Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.V689G
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TSHR

NM_000369.5:p.V689G

Associated Papers

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

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

Zhang HY et al.

Annals of Laboratory Medicine, 2024

Next-generation sequencing identified that RET variation associates with lymph node metastasis and the immune microenvironment in thyroid papillary carcinoma.

Huang Y et al.

Bmc Endocrine Disorders, 2024

38734621 (PubMed )
Supplement: 12902_2024_1586_MOESM2_ESM.xlsx › Genomic_data

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Li L et al.

Endocrine, 2023

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.

Liu TY et al.

Diagnostics (basel, Switzerland), 2022

35453999 (PubMed )
Supplement: diagnostics-12-00951-s001.zip › Table_S3_0707R.xlsx › Table_S3

Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.

Tan LC et al.

Frontiers in Oncology, 2021

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.

Long W et al.

Frontiers in Endocrinology, 2021

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

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.

Cassio A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2013

The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.

Ma SG et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010

Genetics and phenomics of hypothyroidism due to TSH resistance.

Persani L et al.

Molecular and Cellular Endocrinology, 2010

Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.

Yuan ZF et al.

Endocrine Journal, 2008

[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].

Yuan ZF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007

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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."