| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00092 | T-B-Severe combined immunodeficiency |
|
|---|
| Reference |
|
|---|
| Authors |
Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U |
|---|
| Title |
Omenn syndrome due to ARTEMIS mutations. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Al-Herz W, Massaad MJ, Chou J, Notarangelo LD, Geha RS |
|---|
| Title |
DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
