Varaico: Literature-Extracted Genetic Variants

Gene:CD14
Variant:p.R90H
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CD14

NM_000591.4:p.R90H

Associated Papers

Human hypofunctional NCF1 variants promote pulmonary fibrosis in the bleomycin-induced mouse model and patients with systemic sclerosis via expansion of SPP1+ monocytes-derived macrophages.

Yuan X et al.

Annals of the Rheumatic Diseases, 2025

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.

Schnappauf O et al.

Pediatric Rheumatology Online Journal, 2021

33892719 (PubMed )
Supplement: 12969_2021_536_MOESM1_ESM.docx
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