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PSEN1 c.1345_1347inv ;(p.T449C)
Variant ID: 14-73685938-ACA-TGT
NM_000021.3(
PSEN1
):c.1345_1347inv;(p.T449C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.
Open Biology
Wu, Yi-Ying YY; Chiu, Feng-Lan FL; Yeh, Chan-Shien CS; Kuo, Hung-Chih HC
Publication Date: 2019-01-31
Variant appearance in text: PSEN1: T449C
PubMed Link:
30958120
Variant Present in the following documents:
Main text
rsob-9-180177.pdf
View BVdb publication page
Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.
The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24
Variant appearance in text: PS1: T449C
PubMed Link:
21531718
Variant Present in the following documents:
Main text
View BVdb publication page