Varaico: Literature-Extracted Genetic Variants

Gene:GM2A
Variant:p.E158*
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GM2A

NM_000405.5:p.E158*

Associated Papers

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2026

41593770 (PubMed )
Supplement: 13023_2026_4195_MOESM3_ESM.xlsx › Enzyme_and_molecular_data

GM2 gangliosidosis AB variant: first case of late onset and review of the literature.

Ganne B et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

Sheth J et al.

Bmc Pediatrics, 2016

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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."