Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.S460F
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SELENON

NM_020451.3:p.S460F

Associated Papers

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

Zhang S et al.

Frontiers in Neurology, 2021

34867752 (PubMed )
Supplement: Table_1.XLSX › list

The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.

Mohamadian M et al.

The Journal of Gene Medicine, 2020

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.

Ziyaee F et al.

Bmc Medical Genetics, 2019

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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."