Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.L688fs
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VPS13A

NM_033305.3:p.L688fs

Associated Papers

Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage.

Wang M et al.

Frontiers in Neurology, 2024

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