Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.G269Splc
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HEXA

NM_000520.6:p.G269Splc

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

Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.

Tupil AR et al.

Neurology. Genetics, 2024

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
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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."