Varaico: Literature-Extracted Genetic Variants

Gene:ACY3
Variant:p.R71H
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ACY3

NM_080658.2:p.R71H

Associated Papers

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

Janson CG et al.

Annals of Neurology, 2006

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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."