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
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
Selamioğlu A et al.
Molecular Syndromology, 2024
EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome.
Rodríguez-Morales M et al.
Journal of Clinical Immunology, 2022
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