Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.Q114*
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NEFL

NM_006158.5:p.Q114*

Associated Papers

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Yum SW et al.

Annals of Neurology, 2009

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.

Abe A et al.

Journal of Human Genetics, 2009

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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."