Varaico: Literature-Extracted Genetic Variants

Gene:SDR9C7
Variant:p.I200T
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SDR9C7

NM_148897.3:p.I200T

Associated Papers

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

Kiener S et al.

Animal Genetics, 2023

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

Seidl-Philipp M et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019

Gestörte Hautbarriere bei zwei österreichischen Schwestern mit autosomal-rezessiver kongenitaler Ichthyose (ARCI) verursacht durch eine Missense-Mutation in SDR9C7.

Seidl-Philipp M et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019

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."