Hermansky-Pudlak syndrome type 8

Type

Disease
External link(s)
- IEMbase
Gene
- BLOC1S3 / BLOC1S3
  19q13.32
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Biogenesis of lysosome-related organelles complex-1 subunit 3
Parent entry
- Hermansky-Pudlak syndrome