Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.*161W
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PMP22

NM_000304.4:p.*161W

Associated Papers

PMP22-Related Neuropathies: A Systematic Review.

Cesaroni CA et al.

Genes, 2025

41300731 (PubMed )
Supplement: genes-16-01279-s001.zip › Supplementary_Table_S1.xlsx › DSS

A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.

Zambon AA et al.

Journal of the Peripheral Nervous System : Jpns, 2020

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