Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.I161delFs
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ALDH3A2

NM_000382.3:p.I161delFs

Associated Papers

Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.

Cho KH et al.

Clinical Genetics, 2018

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome.

Sakai K et al.

The Journal of Investigative Dermatology, 2006

Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome.

Shibaki A et al.

The Journal of Investigative Dermatology, 2004

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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."