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PSEN1 c.1135_1137delinsTGT ;(p.V379C)
Variant ID: 14-73683839-GTA-TGT
NM_000021.3(
PSEN1
):c.1135_1137delinsTGT;(p.V379C)
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:
Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Morohashi, Yuichi Y; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2006-11-15
Variant appearance in text: PS1: V379C
PubMed Link:
17108181
Variant Present in the following documents:
Main text
View BVdb publication page