Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.M256T
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THRA

NM_199334.5:p.M256T

Associated Papers

Structural Insights Into Thyroid Hormone Receptors.

Tambones I et al.

Endocrinology, 2024

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.

Persani L et al.

European Thyroid Journal, 2024

38963712 (PubMed )
Supplement: supplementary_table_1.pdf

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

An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.

Tagami T

Endocrine Journal, 2021

The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults

Erbaş İM et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

The In Vitro Functional Impairment of Thyroid Hormone Receptor Alpha 1 Isoform Mutants Is Mainly Dictated by Reduced Ligand Sensitivity.

Wejaphikul K et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β.

Wejaphikul K et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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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."