Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
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ABSTRACT:
SUBMITTER: Hebbar M
PROVIDER: S-EPMC6422680 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Publications
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar Malavika M Prasada L Harsha H Bhowmik Aneek Das AD Trujillano Daniel D Shukla Anju A Chakraborti Shrijeet S Kandaswamy Krishna Kumar KK Rolfs Arndt A Kamath Nutan N Dalal Ashwin A Bielas Stephanie S Girisha Katta Mohan KM
American journal of medical genetics. Part A 20160608 9
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