APOB c.2393del ;(p.L798Rfs*3)

Variant ID: 2-21247848-CA-C

NM_000384.2(APOB):c.2393del;(p.L798Rfs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
Kusters, D M DM; Huijgen, R R; Defesche, J C JC; Vissers, M N MN; Kindt, I I; Hutten, B A BA; Kastelein, J J P JJ
Publication Date: 2011-04

Variant appearance in text: APOB: 2393del
PubMed Link: 21475731
Variant Present in the following documents:
  • Main text
  • 12471_2011_Article_76.pdf
View BVdb publication page