Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.G269R
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HEXA

NM_000520.6:p.G269R

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

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › HEXA

Tay-Sachs disease: a novel mutation from India.

Khera D et al.

Bmj Case Reports, 2018

Molecular study of lysosomal storage disorders in India.

Sheth J

Molecular Cytogenetics, 2014

Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

Sheth J et al.

Molecular Genetics and Metabolism Reports, 2014

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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."