Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.M1L
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HEXB

NM_000521.4:p.M1L

Associated Papers

Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.

Lewis CJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40970120 (PubMed )
Supplement: media-1.xlsx › HEXA

Natural History of Adult Patients with GM2 Gangliosidosis.

Masingue M et al.

Annals of Neurology, 2020

Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.

Levit A et al.

Molecular Genetics and Metabolism, 2010

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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."