Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L18R
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PMP22

NM_000304.4:p.L18R

Associated Papers

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse.

Madrid RE et al.

Neuromuscular Disorders : Nmd, 2013

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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."