Hermansky-Pudlak syndrome with neutropaenia (Q98355)
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HPS type 2, which is due to mutations in AP3B1 gene and presents with neutropaenia as well as the other characteristic features of HPS.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1415110774 |
||
| English | Hermansky-Pudlak syndrome with neutropaenia |
HPS type 2, which is due to mutations in AP3B1 gene and presents with neutropaenia as well as the other characteristic features of HPS. |
