Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.E293_A294del1
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ASPA

NM_000049.4:p.E293_A294del1

Associated Papers

Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.

Weiß M et al.

Human Gene Therapy, 2025

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.

Nagy A et al.

Human Gene Therapy, 2024

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Bley A et al.

Orphanet Journal of Rare Diseases, 2021

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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."