Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.S307delFs
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ASPA

NM_000049.4:p.S307delFs

Associated Papers

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene.

Liu N et al.

Stem Cell Research, 2024

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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."