Varaico: Literature-Extracted Genetic Variants

Gene:KLHL41
Variant:p.L248F
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KLHL41

NM_006063.3:p.L248F

Associated Papers

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.

Bouman K et al.

Journal of Neuropathology and Experimental Neurology, 2021

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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."