NPC1 c.286_287delinsGC ;(p.R96A)

Variant ID: 18-21152038-CT-GC

NM_000271.4(NPC1):c.286_287delinsGC;(p.R96A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Cell
Gong, Xin X; Qian, Hongwu H; Zhou, Xinhui X; Wu, Jianping J; Wan, Tao T; Cao, Pingping P; Huang, Weiyun W; Zhao, Xin X; Wang, Xudong X; Wang, Peiyi P; Shi, Yi Y; Gao, George F GF; Zhou, Qiang Q; Yan, Nieng N
Publication Date: 2016-06-02

Variant appearance in text: NPC1: R96A
PubMed Link: 27238017
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page