Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.L484P
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OGA

NM_012215.5:p.L484P

Associated Papers

Structural basis of the GM2 gangliosidosis B variant.

Matsuzawa F et al.

Journal of Human Genetics, 2003

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

Myerowitz R

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."