Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.K517insFs
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HEXB

NM_000521.4:p.K517insFs

Associated Papers

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

Akerman BR et al.

American Journal of Human Genetics, 1997

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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."