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

Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

Du X et al.

Medicine, 2018

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."