Associated Papers
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P et al.
European Journal of Human Genetics : Ejhg, 2023
New variants in Spanish Niemann-Pick type c disease patients.
López de Frutos L et al.
Molecular Biology Reports, 2020
NPC-db, a Niemann-Pick type C disease gene variation database.
Runz H et al.
Human Mutation, 2008
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