Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.R439*
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SELENON

NM_020451.3:p.R439*

Associated Papers

SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.

Germani S et al.

Cell Reports. Medicine, 2024

38402623 (PubMed )
Supplement: mmc1.pdf

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.

Zhang S et al.

Frontiers in Neurology, 2021

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

Villar-Quiles RN et al.

Neurology, 2020

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C et al.

Human Mutation, 2019

Selenoprotein N in skeletal muscle: from diseases to function.

Castets P et al.

Journal of Molecular Medicine (berlin, Germany), 2012

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.

Arbogast S et al.

Annals of Neurology, 2009

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.

Jungbluth H et al.

Neuromuscular Disorders : Nmd, 2004

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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."