Varaico: Literature-Extracted Genetic Variants

Gene:IL23A
Variant:p.P113L
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IL23A

NM_016584.3:p.P113L

Associated Papers

An update on genetic basis of generalized pustular psoriasis (Review).

Zhou J et al.

International Journal of Molecular Medicine, 2021

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.

Haskamp S et al.

American Journal of Human Genetics, 2020

32758447 (PubMed )
Supplement: mmc1.pdf

Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.

Mössner R et al.

The Journal of Investigative Dermatology, 2015

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI et al.

Journal of Inherited Metabolic Disease, 2011

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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."