Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.A459A
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TSHR

NM_000369.5:p.A459A

Associated Papers

Is there are relationship between polymorphisms TSHR gene frequencies and genetic ancestry markers in patients with Primary Congenital Hypothyroidism?

Cortinhas-Alves EA et al.

Genetics and Molecular Biology, 2025

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s007.xlsx › Family_B

Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents.

Eszlinger M et al.

Molecular and Cellular Endocrinology, 2014

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.

Scaglia PA et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism.

Alves EA et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010

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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."