Varaico: Literature-Extracted Genetic Variants

Gene:EPG5
Variant:p.I262delFs
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EPG5

NM_020964.3:p.I262delFs

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

Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.

Hedberg-Oldfors C et al.

Neuromuscular Disorders : Nmd, 2017

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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."