Associated Papers
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.
Almenabawy N et al.
American Journal of Medical Genetics. Part A, 2024
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 0
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