Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.Y153*
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PMP22

NM_000304.4:p.Y153*

Associated Papers

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.

Juneja M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Molecular mechanisms of inherited demyelinating neuropathies.

Scherer SS et al.

Glia, 2008

[5 Cases of Charcot-Marie disease with electromyography examinations].

DECHAUME et al.

Lyon Medical, 1957

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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."