Entry |
|
Name |
|
Type |
Loss of function
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
|
Disease |
H00290 | Aicardi-Goutieres syndrome |
H00880 | Dyschromatosis symmetrica hereditaria |
|
Reference |
|
Authors |
Crow YJ, Stetson DB |
Title |
The type I interferonopathies: 10 years on. |
Journal |
|
Reference |
|
Authors |
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N |
Title |
Molecular biology of autoinflammatory diseases. |
Journal |
|
Reference |
|
Authors |
Quin J, Sedmik J, Vukic D, Khan A, Keegan LP, O'Connell MA |
Title |
ADAR RNA Modifications, the Epitranscriptome and Innate Immunity. |
Journal |
|
Reference |
|
Authors |
Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y |
Title |
Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. |
Journal |
|
LinkDB |
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