Hermansky-Pudlak syndrome with neutropaenia (Q98355): Difference between revisions
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| description / pt-br | description / pt-br | ||
HPS tipo 2 é devida a mutações no gene AP3B1 e se apresenta com neutropenia além das outras características da HPS. | |||
| description / en | description / en | ||
HPS type 2, which is due to mutations in AP3B1 gene and presents with neutropaenia as well as the other characteristic features of HPS. | |||
Revision as of 14:47, 16 August 2026
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 |
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| 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. |
