Varaico: Literature-Extracted Genetic Variants

Gene:SDR9C7
Variant:p.R276C
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SDR9C7

NM_148897.3:p.R276C

Associated Papers

Susceptibility to Dermatophytosis in SDR9C7-Nonsyndromic Epidermal Differentiation Disorder: Observation of Cutaneous Inflammation Involving IRF4 and IL-17.

Tajiri M et al.

The Journal of Dermatology, 2026

SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis.

Kiener S et al.

Animal Genetics, 2023

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

Mazereeuw-Hautier J et al.

Acta Dermato-venereologica, 2020

SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.

Takeichi T et al.

The Journal of Clinical Investigation, 2020

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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."