Varaico: Literature-Extracted Genetic Variants

Gene:SCN7A
Variant:p.A94E
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SCN7A

NM_002976.4:p.A94E

Associated Papers

TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.

Gómez-Tortosa E et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

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