Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.M1I
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PMP22

NM_000304.4:p.M1I

Associated Papers

Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.

Kawamoto N et al.

Journal of the Peripheral Nervous System : Jpns, 2023

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Hong YB et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).

England JD et al.

Muscle & Nerve, 2009

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