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Paper Details

<i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
J Med Genet
14
2022
1529A>T p, DDX58, DDX58 variant, DExD/H-box helicase 58, Glu510Val, JOAG, Patients, RIG-I, SGMRT, SGMRT2, Singleton-Merten syndrome, aortic, c.1529A>T, exogenous RNA ligands, fibroblasts, glaucoma, immunogenetic disorder, inflammatory infiltrates, interferon, juvenile open-angle glaucoma, keratinocytes, luciferase, patient, psoriasiform skin rash, skeletal and dental dysplasia, skin rash
Author NameAffiliation
Lam C TsoiUniversity of Michigan Medical School ann arbor
Lam C TsoiUniversity of Michigan Medical School ann arbor
Edward W CowenNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Edward W CowenNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Marcus Y Chenand Blood Institute
Carlos R FerreiraNational Human Genome Research Institute
Brian P BrooksNational Eye Institute
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