Boeckelmann, Doris, Felix Sobotta, Felicia Andresen, Amina Szvetnik, Salome Fels, and Barbara Zieger. “Panel Sequencing Identified a Novel Splice Site Mutation in Hermansky-Pudlak Syndrome Type 1 Patients”. Archives of Clinical and Medical Case Reports 4, no. 6 (December 2, 2020): 1172–1181. Accessed June 15, 2026. https://fortunejournals.org/ojs/index.php/acmcr/article/view/22431.