Publication | Open Access

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Neurobiology Of DiseaseMendelian DisorderVariant InterpretationMedicineData SetsGenetic EpidemiologyPathologyNeurologyHigh IncidenceDisease Gene IdentificationPublic HealthNeuropathologyDisease DiagnosisType C1EpidemiologyDisease ClassificationClinical Genetics