Varaico: Literature-Extracted Genetic Variants

Gene:SDR9C7
Variant:p.R188C
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SDR9C7

NM_148897.3:p.R188C

Associated Papers

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Mazereeuw-Hautier J et al.

Acta Dermato-venereologica, 2020

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.

Hotz A et al.

The British Journal of Dermatology, 2018

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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."