Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L4insFs
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PMP22

NM_000304.4:p.L4insFs

Associated Papers

Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations.

Liehr T et al.

Acta Neuropathologica, 1997

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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."