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: rs140149624

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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Single-Nucleotide Polymorphisms in Human NPC1 Influence Filovirus Entry Into Cells.

The Journal Of Infectious Diseases

Kondoh, Tatsunari T; Letko, Michael M; Munster, Vincent J VJ; Manzoor, Rashid R; Maruyama, Junki J; Furuyama, Wakako W; Miyamoto, Hiroko H; Shigeno, Asako A; Fujikura, Daisuke D; Takadate, Yoshihiro Y; Yoshida, Reiko R; Igarashi, Manabu M; Feldmann, Heinz H; Marzi, Andrea A; Takada, Ayato A

Publication Date: 2018-11-22

Variant appearance in text: NPC1: S425L; rs140149624

PubMed Link: 30010949

Variant Present in the following documents:

• Main text

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Characterization of Somatic Mutations in Air Pollution-Related Lung Cancer.

Ebiomedicine

Yu, Xian-Jun XJ; Yang, Min-Jun MJ; Zhou, Bo B; Wang, Gui-Zhen GZ; Huang, Yun-Chao YC; Wu, Li-Chuan LC; Cheng, Xin X; Wen, Zhe-Sheng ZS; Huang, Jin-Yan JY; Zhang, Yun-Dong YD; Gao, Xiao-Hong XH; Li, Gao-Feng GF; He, Shui-Wang SW; Gu, Zhao-Hui ZH; Ma, Liang L; Pan, Chun-Ming CM; Wang, Ping P; Chen, Hao-Bin HB; Hong, Zhi-Peng ZP; Wang, Xiao-Lu XL; Mao, Wen-Jing WJ; Jin, Xiao-Long XL; Kang, Hui H; Chen, Shu-Ting ST; Zhu, Yong-Qiang YQ; Gu, Wen-Yi WY; Liu, Zi Z; Dong, Hui H; Tian, Lin-Wei LW; Chen, Sai-Juan SJ; Cao, Yi Y; Wang, Sheng-Yue SY; Zhou, Guang-Biao GB

Publication Date: 2015-06

Variant appearance in text: NPC1: S425L

PubMed Link: 26288819

Variant Present in the following documents:

• mmc6.xlsx, sheet 2

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD

Publication Date: 2016-01

Variant appearance in text: NPC1: 1274C>T; S425L; rs140149624

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

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