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APOB c.9115_9119del ;(p.F3039Sfs*5)
Variant ID: 2-21230620-TGAAAA-T
NM_000384.2(
APOB
):c.9115_9119del;(p.F3039Sfs*5)
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:
Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD.
Journal Of Clinical Lipidology
Vilar-Gomez, Eduardo E; Gawrieh, Samer S; Liang, Tiebing T; McIntyre, Adam D AD; Hegele, Robert A RA; Chalasani, Naga N
Publication Date: 2021
Variant appearance in text: APOB: 9115_9119del; F3039fs
PubMed Link:
33454241
Variant Present in the following documents:
Main text
View BVdb publication page
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Nature Communications
Oetjens, M T MT; Kelly, M A MA; Sturm, A C AC; Martin, C L CL; Ledbetter, D H DH
Publication Date: 2019-10-25
Variant appearance in text: APOB: 9115_9119del
PubMed Link:
31653860
Variant Present in the following documents:
41467_2019_12869_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page