Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.L351L
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HEXA

NM_000520.6:p.L351L

Associated Papers

Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.

Khalilian S et al.

Biochemical Genetics, 2025

The juvenile gangliosidoses: A timeline of clinical change.

King KE et al.

Molecular Genetics and Metabolism Reports, 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."