Varaico: Literature-Extracted Genetic Variants

Gene:FAN1
Variant:p.R507P
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FAN1

NM_014967.5:p.R507P

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6

Structural and molecular basis of PCNA-activated FAN1 nuclease function in DNA repair.

Li F et al.

Nature Communications, 2025

Structural and molecular basis of FAN1 defects in promoting Huntington's disease.

Li F et al.

Biorxiv : the Preprint Server for Biology, 2024

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