LRP1 c.8077C>T ;(p.R2693C)

Variant ID: 12-57588368-C-T

NM_002332.2(LRP1):c.8077C>T;(p.R2693C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


De novo mutations implicate novel genes in systemic lupus erythematosus.

Human Molecular Genetics
Pullabhatla, Venu V; Roberts, Amy L AL; Lewis, Myles J MJ; Mauro, Daniele D; Morris, David L DL; Odhams, Christopher A CA; Tombleson, Philip P; Liljedahl, Ulrika U; Vyse, Simon S; Simpson, Michael A MA; Sauer, Sascha S; de Rinaldis, Emanuele E; Syvänen, Ann-Christine AC; Vyse, Timothy J TJ
Publication Date: 2018-02-01

Variant appearance in text: LRP1: Arg2693Cys
PubMed Link: 29177435
Variant Present in the following documents:
  • Main text
  • ddx407.pdf
View BVdb publication page