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Open AccessIdentification and Classification of Rare Variants in NPC1 and NPC2 in Quebec
Niemann–Pick disease type C (NPC) is a treatable autosomal recessive neurodegenerative condition which leads to a variety of progressive manifestations. Despite most cases being diagnosed at a young age, disea...
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Article
Open AccessEstimated prevalence of Niemann–Pick type C disease in Quebec
Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose....
