Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.V23fs
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MPZ

NM_000530.8:p.V23fs

Associated Papers

Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.

Maino A et al.

Journal of the Peripheral Nervous System : Jpns, 2025

CRISPR activation to characterize splice-altering variants in easily accessible cells.

Terkelsen T et al.

American Journal of Human Genetics, 2024

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