Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.M1T
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WDR45

NM_001029896.2:p.M1T

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

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.

Susgun S et al.

Annals of Clinical and Translational Neurology, 2025

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