Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.F354_Y355del1
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HEXA

NM_000520.6:p.F354_Y355del1

Associated Papers

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Abtahi R et al.

Journal of Molecular Neuroscience : Mn, 2022

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Montalvo AL et al.

Human Mutation, 2005

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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."