Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.E679D
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SECISBP2

NM_024077.5:p.E679D

Associated Papers

The First-Ever Investigation of SNP rs119461977 in SECISBP2/SBP2 Gene and its Implications for Hypothyroidism: A Novel Case-Control Research.

Kaur M et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2025

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_2.pdf

Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

Schoenmakers E et al.

International Journal of Molecular Sciences, 2021

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

Lee KW et al.

Frontiers in Endocrinology, 2021

Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.

Schoenmakers E et al.

Antioxidants & Redox Signaling, 2020

Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

Fu J et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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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."