Varaico: Literature-Extracted Genetic Variants

Gene:EPG5
Variant:p.Q2519_A2520Splc
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EPG5

NM_020964.3:p.Q2519_A2520Splc

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

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.

Deneubourg C et al.

Autophagy, 2025

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