Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.G19G
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ASPA

NM_000049.4:p.G19G

Associated Papers

Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.

Sreevishnupriya K et al.

Science China. Life Sciences, 2012

Mutational analysis of aspartoacylase: implications for Canavan disease.

Hershfield JR et al.

Brain Research, 2007

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

Sistermans EA et al.

European Journal of Human Genetics : Ejhg, 2000

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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."