| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
ORAI1 ORAI calcium release-activated calcium modulator 1 [KO: K16056]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00093 | Combined immunodeficiency |
|
|---|
| Reference |
|
|---|
| Authors |
Silva-Rojas R, Laporte J, Bohm J |
|---|
| Title |
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Feske S, Picard C, Fischer A |
|---|
| Title |
Immunodeficiency due to mutations in ORAI1 and STIM1. |
|---|
| Journal |
|
|---|
| LinkDB |
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|---|
