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A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.

Lansdon LA, Chen D, Rush ET, Engleman K, Zhang L, Saunders CJ, Oroszi G. A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome. Cold Spring Harb Mol Case Stud. 2021 10; 7(5).

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