Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.K682fs
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SECISBP2

NM_024077.5:p.K682fs

Associated Papers

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

A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.

Çatli G et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

Inherited defects in thyroid hormone cell-membrane transport and metabolism.

Fu J et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2014

The syndromes of reduced sensitivity to thyroid hormone.

Dumitrescu AM et al.

Biochimica Et Biophysica Acta, 2013

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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."