- 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
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.