Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.V349L
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GBA1

NM_000157.4:p.V349L

Associated Papers

Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies.

Shiner T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.

Xu YH et al.

The American Journal of Pathology, 2003

Pathology of amino acid deficiency in rats; phenylalanine deficiency.

FERGUSON RL et al.

The American Journal of Pathology, 1948

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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."