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PC c.97_99delinsTGT ;(p.E33C)
Variant ID: 11-66639532-CTC-ACA
NM_001040716.1(
PC
):c.97_99delinsTGT;(p.E33C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
An open-source UFBGA µ-board for wearable devices.
Hardwarex
Antunes, Rui Azevedo RA; Palma, Luís Brito LB
Publication Date: 2022-04
Variant appearance in text: PCB: E33C
PubMed Link:
35509930
Variant Present in the following documents:
main.pdf
View BVdb publication page
Thermodynamic destabilization and aggregation propensity as the mechanism behind the association of apoE3 mutants and lipoprotein glomerulopathy.
Journal Of Lipid Research
Katsarou, Maria M; Stratikos, Efstratios E; Chroni, Angeliki A
Publication Date: 2018-12
Variant appearance in text: PC: E33C
PubMed Link:
30309894
Variant Present in the following documents:
Main text
View BVdb publication page
Thermodynamic and structural destabilization of apoE3 by hereditary mutations associated with the development of lipoprotein glomerulopathy.
Journal Of Lipid Research
Georgiadou, Dimitra D; Stamatakis, Kostas K; Efthimiadou, Eleni K EK; Kordas, George G; Gantz, Donald D; Chroni, Angeliki A; Stratikos, Efstratios E
Publication Date: 2013-01
Variant appearance in text: PCB: E33C
PubMed Link:
23110818
Variant Present in the following documents:
Main text
View BVdb publication page