Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.D224Y
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MAD2L1BP

NM_014628.3:p.D224Y

Associated Papers

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Callegari I et al.

Journal of Neurology, 2019

The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.

Fabrizi GM et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2018

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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."