Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.Y180*
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HEXA

NM_000520.6:p.Y180*

Associated Papers

Three novel mutations in Iranian patients with Tay-Sachs disease.

Jamali S et al.

Iranian Biomedical Journal, 2014

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.

Bach G et al.

American Journal of Medical Genetics, 2001

Tay-Sachs disease and HEXA mutations among Moroccan Jews.

Kaufman M et al.

Human Mutation, 1997

Tay-Sachs disease in a Moroccan Jewish family: a possible new mutation.

Bach G et al.

Israel Journal of Medical Sciences, 1976

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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."