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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXB

Variant:p.L529R

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HEXB

NM_000521.4:p.L529R

hg38:chr5:74720720 T>G

Associated Papers

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.

Eichler F et al.

Nature Medicine, 2025

40817303 (PubMed )

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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."