Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.K96Q
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MPZ

NM_000530.8:p.K96Q

Associated Papers

Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.

Lei L et al.

European Journal of Neurology, 2023

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.

Taniguchi T et al.

Clinical Genetics, 2021

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families.

Xie Y et al.

Frontiers in Neurology, 2021

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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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."