Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.A249V
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GBA1

NM_000157.4:p.A249V

Associated Papers

Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.

Serrano-Gonzalo I et al.

International Journal of Molecular Sciences, 2025

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

Djarmati A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Detection of 12 new mutations in Gaucher disease Brazilian patients.

Rozenberg R et al.

Blood Cells, Molecules & Diseases, 0

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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."