Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.N331H
Back to variants list

THRB

NM_001354712.2:p.N331H

Associated Papers

Structural Insights Into Thyroid Hormone Receptors.

Tambones I et al.

Endocrinology, 2024

A novel variant of THRβ and its 4-year clinical course in a Korean boy with resistance to thyroid hormone.

Kim S et al.

Annals of Pediatric Endocrinology & Metabolism, 2023

Structural insights revealed by two novel THRB mutations.

Cardoso LF et al.

Endocrine, 2020

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

Resistance to thyroid hormone due to mutations in the THRB gene impairs bone mass and affects calcium and phosphorus homeostasis.

Cardoso LF et al.

Bone, 2014

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."