Associated Papers
A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9).
Kahani SM et al.
Bmc Genomics, 2024
A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
Boeckelmann D et al.
Cells, 2021
The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.
Liu T et al.
The Journal of Dermatology, 2021
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