Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.L452insFs
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SELENON

NM_020451.3:p.L452insFs

Associated Papers

Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.

Ogasawara M et al.

Journal of Neuropathology and Experimental Neurology, 2020

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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."