Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L4delFs
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PMP22

NM_000304.4:p.L4delFs

Associated Papers

Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.

Chen L et al.

Journal of Neurology, 2024

39666198 (PubMed )
Supplement: 415_2024_12839_MOESM1_ESM.xlsx › Sheet1

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.

Benquey T et al.

Journal of Neuromuscular Diseases, 2020

The PMP22 gene and its related diseases.

Li J et al.

Molecular Neurobiology, 2013

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Luigetti M et al.

Muscle & Nerve, 2008

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.

Muglia M et al.

Journal of the Neurological Sciences, 2007

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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."