Publications:

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

International Journal Of Molecular Sciences

Feng, Xiao X; Cozma, Claudia C; Pantoom, Supansa S; Hund, Christina C; Iwanov, Katharina K; Petters, Janine J; Völkner, Christin C; Bauer, Claudia C; Vogel, Florian F; Bauer, Peter P; Weiss, Frank U FU; Lerch, Markus M MM; Knospe, Anne-Marie AM; Hermann, Andreas A; Frech, Moritz J MJ; Luo, Jiankai J; Rolfs, Arndt A; Lukas, Jan J

Publication Date: 2019-10-19

Variant appearance in text: NPC1: 3817G>A; Glu1273Lys; rs969680897

PubMed Link: 31635081

Variant Present in the following documents:

• Main text
• ijms-20-05185.pdf

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