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  1. Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

Dr. Xiao Feng 1 Dr. rer. nat. Claudia Cozma, MD 2 Dr. rer. nat. Supansa Pantoom 1 Christina Hund 1 Katharina Iwanov 1 Janine Petters 1 Christin Völkner 1 Dr. Peter Bauer, MD 2 Florian Vogel 2 Claudia Bauer 2 Dr. rer. nat. Frank Ulrich Weiss, MD 3 Prof. Dr. Markus M. Lerch, MD 3 Anne-Marie Knospe 1 Andreas Hermann, MD 1 Moritz J Frech, PhD 1 Jiankai Luo, MD 1 Prof. Arndt Rolfs, MD 2 Jan Lukas, PhD 1
1 University of Rostock 2 CENTOGENE AG 3 Ernst Moritz Arndt University, Greifswald
October 19, 2019

Interpretation of genetic variants as pathogenic or benign strongly benefits from functional investigations. Researchers at CENTOGENE, together with colleagues from Rostock University, have developed a pertinent cellular assay for the NPC1 gene, involved in Niemann-Pick disease. The successful application of this assay was recently published in International Journal of Molecular Sciences.