Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.W417C
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GBA1

NM_000157.4:p.W417C

Associated Papers

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

GBA1 variants in Brazilian Gaucher disease patients.

Basgalupp SP et al.

Molecular Genetics and Metabolism Reports, 2023

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Siebert M et al.

Jimd Reports, 2013

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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."