Varaico: Literature-Extracted Genetic Variants

Gene:RAB32
Variant:p.H129L
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RAB32

NM_006834.5:p.H129L

Associated Papers

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable7

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Gustavsson EK et al.

The Lancet. Neurology, 2024

38614108 (PubMed )
Supplement: NIHMS1992133-supplement-Suppl__Appendix_II.xlsx › page_4

A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.

Gustavsson EK et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38293014 (PubMed )
Supplement: media-1.pdf
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