Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.V292fs
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PRX

NM_181882.3:p.V292fs

Associated Papers

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.

Lin Z et al.

Journal of Neurology, 2024

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