Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.W329Splc
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HEXA

NM_000520.6:p.W329Splc

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

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Gort L et al.

Gene, 2012

Rapid identification of HEXA mutations in Tay-Sachs patients.

Giraud C et al.

Biochemical and Biophysical Research Communications, 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."