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Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar M, Prasada L H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas S, Girisha KM. Hebbar M, et al. Among authors: bhowmik ad. Am J Med Genet A. 2016 Sep;170(9):2486-9. doi: 10.1002/ajmg.a.37794. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27271431 Free PMC article. No abstract available.
13 results