Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.L780S
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ALDH18A1

NM_002860.4:p.L780S

Associated Papers

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

Nozaki F et al.

Brain & Development, 2016

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

Wolthuis DF et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014

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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."