Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.R67H
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MPZ

NM_000530.8:p.R67H

Associated Papers

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Geroldi A et al.

Journal of Medical Genetics, 2024

Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.

Agrahari A et al.

Journal of Theoretical Biology, 2015

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies.

Meijerink PH et al.

Annals of Neurology, 1996

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