Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.T337del1
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THRB

NM_001354712.2:p.T337del1

Associated Papers

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).

Pappa T et al.

Methods in Molecular Biology (clifton, N.j.), 2018

Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature.

Guo QH et al.

Medicine, 2016

Thyroid hormone receptors and resistance to thyroid hormone disorders.

Ortiga-Carvalho TM et al.

Nature Reviews. Endocrinology, 2014

Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.

Ferrara AM et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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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."