D. Boeckelmann, F. Sobotta, F. Andresen, A. Szvetnik, S. Fels, and B. Zieger, “Panel Sequencing Identified a Novel Splice Site Mutation in Hermansky-Pudlak Syndrome Type 1 Patients”, acmcr, vol. 4, no. 6, pp. 1172–1181, Dec. 2020.