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.




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