Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.R590L
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MPO

NM_000250.2:p.R590L

Associated Papers

The Role of Genetics on Psoriasis Susceptibility, Comorbidities, and Treatment Response.

Bui A et al.

Dermatologic Clinics, 2024

A molecular glue RBM39-degrader induces synthetic lethality in cancer cells with homologous recombination repair deficiency.

Kohsaka S et al.

Npj Precision Oncology, 2024

38789724 (PubMed )
Supplement: 41698_2024_610_MOESM3_ESM.xlsx › Supplementary_Data_2

Generalized pustular psoriasis that developed in a patient with an NFKB2 variant.

Wada S et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2024

Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis.

Takeichi T et al.

Experimental Dermatology, 2023

A homozygous loss-of-function variant in the MPO gene is associated with generalized pustular psoriasis.

Onitsuka M et al.

The Journal of Dermatology, 2023

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS et al.

Journal of Lipid Research, 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."