Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.P81_A82del1
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ALDH5A1

NM_001080.3:p.P81_A82del1

Associated Papers

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

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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."