Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.V136A
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MPZ

NM_000530.8:p.V136A

Associated Papers

A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions.

Reyes-Marin K et al.

Clinical Neurology and Neurosurgery, 2011

Transmembrane domain of myelin protein zero can form dimers: possible implications for myelin construction.

Plotkowski ML et al.

Biochemistry, 2007

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Choi BO et al.

Human Mutation, 2004

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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."