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Journal: Cells, 2021
Volume: 10
Number: 2630

Article: A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies
Authors: by Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura and Barbara Zieger
Link: https://www.mdpi.com/2073-4409/10/10/2630

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