Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.M26I
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HEXB

NM_000521.4:p.M26I

Associated Papers

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

Georgiou T et al.

Meta Gene, 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."