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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASPA

Variant:p.D249Y

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ASPA

NM_000049.4:p.D249Y

hg38:chr17:3498891 G>T

Associated Papers

Molecular basis of Canavan's disease: from human to mouse.

Surendran S et al.

Journal of Child Neurology, 2003

14572138 (PubMed )

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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."