Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.L500delFs
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HEXA

NM_000520.6:p.L500delFs

Associated Papers

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

Late-onset Tay-Sachs disease.

Barritt AW et al.

Practical Neurology, 2017

Eight novel mutations in the HEXA gene.

McGinniss MJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."