Varaico: Literature-Extracted Genetic Variants

Gene:DIO1
Variant:p.N94K
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DIO1

NM_000792.7:p.N94K

Associated Papers

Gene polymorphisms and thyroid hormone signaling: implication for the treatment of hypothyroidism.

Penna GC et al.

Endocrine, 2024

Role of hepatic deiodinases in thyroid hormone homeostasis and liver metabolism, inflammation, and fibrosis.

Bruinstroop E et al.

European Thyroid Journal, 2023

Genetic disorders of thyroid development, hormone biosynthesis and signalling.

Moran C et al.

Clinical Endocrinology, 2022

Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.

Furman A et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.

França MM et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Lee KW et al.

Frontiers in Endocrinology, 2021

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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."