Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.P446P
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HEXA

NM_000520.6:p.P446P

Associated Papers

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.

Hoffman JD et al.

Molecular Genetics & Genomic Medicine, 2013

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.

Myerowitz R

Human Mutation, 1997

Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

Triggs-Raine B et al.

American Journal of Human Genetics, 1995

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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."