Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.L243_S245del0
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ALDH5A1

NM_001080.3:p.L243_S245del0

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_S1

Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency.

Chen X et al.

Bmc Neuroscience, 2022

Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.

Chen XD et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2020

[Succinic semialdehyde dehydrogenase deficiency].

Deng XL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2011

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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."