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PSEN1 c.1394T>G ;(p.F465C)
Variant ID: 14-73685987-T-G
NM_000021.3(
PSEN1
):c.1394T>G;(p.F465C)
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:
An atomic structure of human γ-secretase.
Nature
Bai, Xiao-Chen XC; Yan, Chuangye C; Yang, Guanghui G; Lu, Peilong P; Ma, Dan D; Sun, Linfeng L; Zhou, Rui R; Scheres, Sjors H W SHW; Shi, Yigong Y
Publication Date: 2015-09-10
Variant appearance in text: PS1: F465C
PubMed Link:
26280335
Variant Present in the following documents:
Main text
View BVdb publication page