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GENATLAS PHENOTYPE |
last update : 12-09-2017 |
Symbol | IMD48 |
Location | 2q11.2 |
Name | immunodeficiency, severe, combined |
Corresponding gene | ZAP70 |
Other symbol(s) | ZRK, ZAP70 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | defense and immunity |
Type | disease |
Gene product |
Name | ZAP70 non receptor tyrosine kinase (ZAP70) |
Remark(s) |