Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
Article in BioMed Research International (September 2021)
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Article in BioMed Research International (September 2021)
Article in Scientific Reports (November 2019)
Book chapter (January 2019)