Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.E60Splc
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PMP22

NM_000304.4:p.E60Splc

Associated Papers

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

Koutsis G et al.

Brain : a Journal of Neurology, 2012

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F et al.

Brain : a Journal of Neurology, 2011

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

Park HK et al.

Clinical Genetics, 2006

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