Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

Clarence K. Zhang, Philip B. Stein, Jun Liu, Zuoheng Wang, Ruhua Yang, Judy H. Cho, Peter K. Gregersen, Johannes M.F.G. Aerts, Hongyu Zhao, Gregory M. Pastores, Pramod K. Mistry

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Biochemistry, Genetics and Molecular Biology

Immunology and Microbiology