Varaico: Literature-Extracted Genetic Variants

Gene:FAN1
Variant:p.Q717R
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FAN1

NM_014967.5:p.Q717R

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

35379994 (PubMed )
Supplement: 41593_2022_1033_MOESM1_ESM.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."