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PSEN1 c.1324_1325delinsAC ;(p.G442T)
Variant ID: 14-73685917-GG-AC
NM_000021.3(
PSEN1
):c.1324_1325delinsAC;(p.G442T)
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:
Frontotemporal lobar degeneration: current concepts in the light of recent advances.
Brain Pathology (Zurich, Switzerland)
Kumar-Singh, Samir S; Van Broeckhoven, Christine C
Publication Date: 2007-01
Variant appearance in text: PSEN1: Gly442Thr
PubMed Link:
17493044
Variant Present in the following documents:
Main text
View BVdb publication page