Varaico: Literature-Extracted Genetic Variants

Gene:TXNRD2
Variant:p.G375R
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TXNRD2

NM_006440.5:p.G375R

Associated Papers

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant.

Brachet C et al.

European Journal of Endocrinology, 2024

Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.

Maharaj AV

Frontiers in Endocrinology, 2023

Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery.

Santesmasses D et al.

International Journal of Molecular Sciences, 2021

Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.

Rojnueangnit K et al.

Pediatric Cardiology, 2020

Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.

Schweizer U et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016

Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.

Sibbing D et al.

European Heart Journal, 2011

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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."