Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.P8delins
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NEFL

NM_006158.5:p.P8delins

Associated Papers

Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction.

Van Lent J et al.

Brain : a Journal of Neurology, 2021

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Horga A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

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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."