Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.I431M
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THRB

NM_001354712.2:p.I431M

Associated Papers

Cardiovascular morbidity and mortality in patients in Wales, UK with resistance to thyroid hormone β (RTHβ): a linked-record cohort study.

Okosieme OE et al.

The Lancet. Diabetes & Endocrinology, 2023

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

A case of thyroid hormone resistance: a rare mutation.

Gonçalves AP et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2014

One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction.

Narumi S et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2010

Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.

Rivolta CM et al.

Molecular and Cellular Probes, 0

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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."