Associated Papers
Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series.
Pelusi S et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
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
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