Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.L572W
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MPO

NM_000250.2:p.L572W

Associated Papers

Prediction of the Effects of Missense Mutations on Human Myeloperoxidase Protein Stability Using In Silico Saturation Mutagenesis.

Sobitan A et al.

Genes, 2022

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

Haskamp S et al.

American Journal of Human Genetics, 2020

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.

Vergnano M et al.

American Journal of Human Genetics, 2020

32758448 (PubMed )
Supplement: mmc1.pdf

Genetic studies on myeloperoxidase deficiency in Italy.

Marchetti C et al.

Japanese Journal of Infectious Diseases, 2004

Genetic characterization of myeloperoxidase deficiency in Italy.

Marchetti C et al.

Human Mutation, 2004

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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."