Varaico: Literature-Extracted Genetic Variants

Gene:PMP2
Variant:p.M114T
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PMP2

NM_002677.5:p.M114T

Associated Papers

Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.

Uusitalo M et al.

The Febs Journal, 2021

Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.

Geroldi A et al.

Journal of the Peripheral Nervous System : Jpns, 2020

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.

Palaima P et al.

Orphanet Journal of Rare Diseases, 2019

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