Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.Q43delFs
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ALDH5A1

NM_001080.3:p.Q43delFs

Associated Papers

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_S2

Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.

Tokatly Latzer I et al.

Developmental Medicine and Child Neurology, 2023

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.

Tokatly Latzer I et al.

Human Genetics, 2023

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

Latzer IT et al.

Research Square, 2023

The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.

Tokatly Latzer I et al.

Epilepsia, 2023

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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."