Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.Y296C
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GALC

NM_000153.4:p.Y296C

Associated Papers

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.

Senkevich K et al.

Brain : a Journal of Neurology, 2023

36370000 (PubMed )
Supplement: awac413_supplementary_data.zip › brain-2022-00853-File010.xlsx › S4._all_rare_variants

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1
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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."