Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.D494N
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ABAT

NM_020686.6:p.D494N

Associated Papers

Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.

Dong H et al.

Bmc Medical Genomics, 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."