Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.P358S
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GBA1

NM_000157.4:p.P358S

Associated Papers

Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure.

Householder S et al.

Frontiers in Pediatrics, 2025

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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