Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.A455D
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SELENON

NM_020451.3:p.A455D

Associated Papers

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

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Quijano-Roy S et al.

Brain & Development, 2006

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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."