Varaico: Literature-Extracted Genetic Variants

Gene:EPG5
Variant:p.F2492I
Back to variants list

EPG5

NM_020964.3:p.F2492I

Associated Papers

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Dafsari HS et al.

Annals of Neurology, 2025

41053928 (PubMed )
Supplement: ANA-98-932-s004.xlsx › PATIENTS
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."