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NPC1 c.262_263delinsGC ;(p.Q88A)
Variant ID: 18-21152062-TG-GC
NM_000271.4(
NPC1
):c.262_263delinsGC;(p.Q88A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: Q88A
PubMed Link:
27238017
Variant Present in the following documents:
Main text
mmc2.pdf
mmc1.pdf
main.pdf
View BVdb publication page