Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.N227Fs
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GBA1

NM_000157.4:p.N227Fs

Associated Papers

Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.

Higashi K et al.

Molecular Genetics & Genomic Medicine, 2024

38553911 (PubMed )
Supplement: MGG3-12-e2427-s001.docx
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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."