Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.K266_E267Splc
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ALDH3A2

NM_000382.3:p.K266_E267Splc

Associated Papers

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.

Paiva ARB et al.

Arquivos De Neuro-psiquiatria, 2018

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.

Rizzo WB et al.

Archives of Dermatological Research, 2010

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

Rizzo WB et al.

Human Mutation, 2005

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Rizzo WB et al.

American Journal of Human Genetics, 1999

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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."