Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.T327A
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THRA

NM_199334.5:p.T327A

Associated Papers

Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family.

Verma S et al.

Frontiers in Endocrinology, 2022

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S4.xlsx › Sheet1

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.

Furman AE et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation.

le Maire A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Biochemical characterization of four novel mutations in the thyroid hormone receptor beta gene in patients with resistance to thyroid hormone.

Asadi AB et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2008

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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."