Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.D68A
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ASPA

NM_000049.4:p.D68A

Associated Papers

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI et al.

Human Mutation, 2017

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 analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ et al.

Advances in Experimental Medicine and Biology, 2006

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ et al.

Journal of Inherited Metabolic Disease, 2002

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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."