Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.I709T
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MPO

NM_000250.2:p.I709T

Associated Papers

A novel homozygous Y140X mutation of ISG15 causes diverse type I interferonopathies in sibling patients with cutaneous lesions or recurrent parenchymal pneumonia.

Xu Q et al.

Clinical Immunology (orlando, Fla.), 2023

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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."