Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.R476*
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HEXA

NM_000520.6:p.R476*

Associated Papers

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

Zampieri S et al.

Gene, 2012

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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."