Varaico: Literature-Extracted Genetic Variants

Gene:FAN1
Variant:p.R969L
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FAN1

NM_014967.5:p.R969L

Associated Papers

Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.

McAllister B et al.

Nature Neuroscience, 2022

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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