Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.R100delFs
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HEXB

NM_000521.4:p.R100delFs

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 › HEXB

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Sheth J et al.

Jimd Reports, 2024

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Godbole NP et al.

Annals of Clinical and Translational Neurology, 2024

38009419 (PubMed )
Supplement: ACN3-11-207-s001.docx

Atypical presentation of late-onset Sandhoff disease: a case report.

Salamon A et al.

Ideggyogyaszati Szemle, 2021

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.

Rowe OE et al.

Molecular Genetics and Metabolism, 2021

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene.

Sung AR et al.

Neurology. Genetics, 2018

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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."