Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.E285D
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ASPA

NM_000049.4:p.E285D

Associated Papers

Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.

Wijayasinghe YS et al.

Biochemistry, 2014

Purification and preliminary characterization of brain aspartoacylase.

Moore RA et al.

Archives of Biochemistry and Biophysics, 2003

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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."