Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.G150A
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PMP22

NM_000304.4:p.G150A

Associated Papers

Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.

Liu X et al.

Frontiers in Neurology, 2020

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.

Khajavi M et al.

American Journal of Human Genetics, 2007

Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.

Robertson AM et al.

Journal of Anatomy, 2002

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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."