Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.F206fs
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ALDH5A1

NM_001080.3:p.F206fs

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

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.

Glinton KE et al.

Frontiers in Genetics, 2024

39011401 (PubMed )
Supplement: Table1.xlsx › Table_S1

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Li X et al.

Gene, 2015

[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk].

Wu T et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."