Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.L30V
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ASPA

NM_000049.4:p.L30V

Associated Papers

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.

Nagy A et al.

Human Gene Therapy, 2024

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

Mendes MI et al.

Human Mutation, 2017

An atypical case of Canavan disease with stroke-like presentation.

Delaney KE et al.

Pediatric Neurology, 2015

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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."