Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.F20L
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PMP22

NM_000304.4:p.F20L

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 › CMT1E

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

Cakar A et al.

European Journal of Neurology, 2025

39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1
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