Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.C648fs
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GBA2

NM_020944.3:p.C648fs

Associated Papers

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2c_predicted_DM_URVs

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM et al.

Scientific Reports, 2021

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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."