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Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2

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Description scientific article published on 09 December 2019
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author: Takuro Nishikawa  Hirokazu Kanegane  Takuro Kanekura  Ken Okamura  Atsuko Ibusuki 

Publication date December 9, 2019
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