Varaico: Literature-Extracted Genetic Variants

Gene:SDR9C7
Variant:p.R72W
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SDR9C7

NM_148897.3:p.R72W

Associated Papers

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Bastaki F et al.

International Journal of Dermatology, 2017

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.

Shigehara Y et al.

Human Molecular Genetics, 2016

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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."