Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.C31*
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TSHR

NM_000369.5:p.C31*

Associated Papers

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Park KS

Genes, 2021

34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S7

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

Genetics and phenomics of hypothyroidism due to TSH resistance.

Persani L et al.

Molecular and Cellular Endocrinology, 2010

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.

Biebermann H et al.

Frontiers in Bioscience (landmark Edition), 2010

Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.

Nicoletti A et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."