Publications:

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs202046984

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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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: 2359A>G; Ile787Val; rs202046984

PubMed Link: 31635081

Variant Present in the following documents:

• Main text
• ijms-20-05185.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NPC1: 2359A>G; I787V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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