Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.E7K
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MAD2L1BP

NM_014628.3:p.E7K

Associated Papers

Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.

Perez-Olle R et al.

Human Molecular Genetics, 2004

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Jordanova A et al.

Brain : a Journal of Neurology, 2003

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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."