Varaico: Literature-Extracted Genetic Variants

Gene:FAN1
Variant:p.R246W
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FAN1

NM_014967.5:p.R246W

Associated Papers

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

Mejia Maza A et al.

American Journal of Human Genetics, 2026

41443196 (PubMed )
Supplement: mmc2.xlsx › Table_S12

FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability.

Deshmukh AL et al.

Cell Reports, 2021

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