Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.M88T
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GBA1

NM_000157.4:p.M88T

Associated Papers

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.

Youssef MAM et al.

Molecular and Cellular Pediatrics, 2025

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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."