Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.P22R
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SECISBP2

NM_024077.5:p.P22R

Associated Papers

A homozygous mutation in the human selenocysteine tRNA gene impairs UGA recoding activity and selenoproteome regulation by selenium.

Vindry C et al.

Nucleic Acids Research, 2023

Inherited Selenocysteine Transfer RNA Mutation: Clinical and Hormonal Evaluation of 2 Patients.

Geslot A et al.

European Thyroid Journal, 2021

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

Lee KW et al.

Frontiers in Endocrinology, 2021

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.

Schoenmakers E et al.

The Journal of Clinical Investigation, 2016

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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."