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Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
Bastida JM; Morais S; Palma-Barqueros V; Benito R; Bermejo N; Karkucak M; Trapero-Marugan M; Bohdan N; Pereira M; Marin-Quilez A; Oliveira J; Yucel Y; Santos R; Padilla J; Janusz K; Lau C; Martin-Izquierdo M; Couto E; Francisco Ruiz-Pividal J; Vicente V; Hernández-Rivas JM; González-Porras JR; Luisa Lozano M; Lima M; Rivera J.