Associated Papers
Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.
Erwood S et al.
Genome Research, 2019
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
Praggastis M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
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