Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.L192_M193insFs
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NEFL

NM_006158.5:p.L192_M193insFs

Associated Papers

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.

Andrigo C et al.

Neurogenetics, 2005

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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."