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LPL c.835_836delinsGC ;(p.L279A)
Variant ID: 8-19813411-CT-GC
NM_000237.2(
LPL
):c.835_836delinsGC;(p.L279A)
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:
Apolipoprotein E - A Multifunctional Protein with Implications in Various Pathologies as a Result of Its Structural Features.
Computational And Structural Biotechnology Journal
Tudorache, Irina Florina IF; Trusca, Violeta Georgeta VG; Gafencu, Anca Violeta AV
Publication Date: 2017
Variant appearance in text: LPL: L279A
PubMed Link:
28660014
Variant Present in the following documents:
main.pdf
View BVdb publication page
Biophysical properties of apolipoprotein E4 variants: implications in molecular mechanisms of correction of hypertriglyceridemia.
Biochemistry
Gorshkova, Irina N IN; Kypreos, Kyriakos E KE; Gantz, Donald L DL; Zannis, Vassilis I VI; Atkinson, David D
Publication Date: 2008-11-25
Variant appearance in text: LPL: L279A
PubMed Link:
18959431
Variant Present in the following documents:
Main text
View BVdb publication page