Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K237T
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GBA1

NM_000157.4:p.K237T

Associated Papers

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.

Youssef MAM et al.

Molecular and Cellular Pediatrics, 2025

Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.

Donald A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Computational modelling approaches as a potential platform to understand the molecular genetics association between Parkinson's and Gaucher diseases.

Thirumal Kumar D et al.

Metabolic Brain Disease, 2018

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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."