Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L335L
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GBA1

NM_000157.4:p.L335L

Associated Papers

C to U RNA editing of MFN1 is regulated by ADARB1 and associates with favourable prognosis in chronic lymphocytic leukemia.

Gonzalez Martinez A et al.

Scientific Reports, 2025

40813454 (PubMed )
Supplement: 41598_2025_15666_MOESM2_ESM.xlsx › Tabelle1

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
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