Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.G345C
Back to variants list

THRB

NM_001354712.2:p.G345C

Associated Papers

Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone.

Hatano M et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024

Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations.

Rogge B et al.

Thyroid Research, 2023

Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance.

Heldmann M et al.

Endocrine Connections, 2022

Patients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring: an electrophysiological study.

Uter J et al.

Neuroimage. Clinical, 2020

Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.

Fujisawa H et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."