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Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

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Description scientific article published on 01 March 2019
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author: José Rivera  Rosário Santos  Mónica Pereira  Maria L. Lozano  Jose Maria Bastida  Vicente Vicente  Jorge Oliveira  Sara Morais 

Publication date March 1, 2019
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