Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.T445delFs
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HEXA

NM_000520.6:p.T445delFs

Associated Papers

Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.

Karpati M et al.

Neurogenetics, 2004

Tay-Sachs disease carrier screening: a model for prevention of genetic disease.

Kaplan F

Genetic Testing, 1998

Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.

Gil Ribeiro M et al.

Human Mutation, 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."