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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OGA

Variant:p.G446G

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OGA

NM_012215.5:p.G446G

hg38:chr10:101799313 A>G

Associated Papers

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

Myerowitz R

Human Mutation, 1997

9090523 (PubMed )

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

7717398 (PubMed )

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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."