Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.T329N
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THRB

NM_001354712.2:p.T329N

Associated Papers

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

SNP mutations occurring in thyroid hormone receptor influenced individual susceptibility to triiodothyronine: Molecular dynamics and site-directed mutagenesis approaches.

Liu Y et al.

Journal of Cellular Biochemistry, 2018

Conservative management of pregnancy in patients with resistance to thyroid hormone associated with Hashimoto's thyroiditis.

Jonas C et al.

Thyroid : Official Journal of the American Thyroid Association, 2014

Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.

Borck G et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone.

Rivolta CM et al.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004

A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.

Rivolta CM et al.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004

[Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone].

Margotat A et al.

Annales D'endocrinologie, 2001

A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor beta gene.

Sarkissian G et al.

Thyroid : Official Journal of the American Thyroid Association, 1999

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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."