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NPC1 c.2054T>G ;(p.I685S)
Variant ID: 18-21124384-A-C
NM_000271.4(
NPC1
):c.2054T>G;(p.I685S)
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 basis for itraconazole-mediated NPC1 inhibition.
Nature Communications
Long, Tao T; Qi, Xiaofeng X; Hassan, Abdirahman A; Liang, Qiren Q; De Brabander, Jef K JK; Li, Xiaochun X
Publication Date: 2020-01-09
Variant appearance in text: NPC1: I685S
PubMed Link:
31919352
Variant Present in the following documents:
Main text
41467_2019_Article_13917.pdf
View BVdb publication page