Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.R502Splc
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GBA1

NM_000157.4:p.R502Splc

Associated Papers

GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Gabbert C et al.

Bmc Genomics, 2023

37312046 (PubMed )
Supplement: 12864_2023_9417_MOESM1_ESM.pdf

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

Duran R et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

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