| Entry |
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|---|
| Name |
|
|---|
| Type |
Gain of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H01743 | Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation |
| H02159 | Familial cold autoinflammatory syndrome |
|
|---|
| Reference |
|
|---|
| Authors |
Jackson JT, Mulazzani E, Nutt SL, Masters SL |
|---|
| Title |
The role of PLCgamma2 in immunological disorders, cancer, and neurodegeneration. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Kutukculer N, Topyildiz E, Berdeli A, Guven Bilgin B, Aykut A, Durmaz A, Cogulu O, Aksu G, Edeer Karaca N |
|---|
| Title |
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference. |
|---|
| Journal |
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|---|
| LinkDB |
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