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Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome
Jin, Yaqiong; Zhang, Li; Wang, Senfen; Chen, Feng; Gu, Yang
; et al.
Scientific Reports (Nature Publisher Group); London Vol. 7, (Feb 2017): 41308.
DOI:10.1038/srep41308
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