Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
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DOI: 10.1038/s41431-021-00898-7
Abstract: Niemann-Pick disease type C (NP-C) (OMIM#257220) is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age… read more here.
Keywords: niemann pick; variant; disease type; pick disease ... See more keywords