Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L356fs
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GBA1

NM_000157.4:p.L356fs

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

Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.

Mohamed FE et al.

Frontiers in Pharmacology, 2024

Use of Ambroxol as Therapy for Gaucher Disease.

Zhan X et al.

Jama Network Open, 2023

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.

Jiang W et al.

Journal of Human Genetics, 2020

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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."