Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.Q42R
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ASPA

NM_000049.4:p.Q42R

Associated Papers

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

Sreevishnupriya K et al.

Science China. Life Sciences, 2012

Canavan disease: studies on the knockout mouse.

Matalon R et al.

Advances in Experimental Medicine and Biology, 2006

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."