EPB41L1 c.59A>G ;(p.Q20R)

Variant ID: 20-34761758-A-G

NM_012156.2(EPB41L1):c.59A>G;(p.Q20R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: EPB41L1: 59A>G; Q20R
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

American Journal Of Human Genetics
Need, Anna C AC; McEvoy, Joseph P JP; Gennarelli, Massimo M; Heinzen, Erin L EL; Ge, Dongliang D; Maia, Jessica M JM; Shianna, Kevin V KV; He, Min M; Cirulli, Elizabeth T ET; Gumbs, Curtis E CE; Zhao, Qian Q; Campbell, C Ryan CR; Hong, Linda L; Rosenquist, Peter P; Putkonen, Anu A; Hallikainen, Tero T; Repo-Tiihonen, Eila E; Tiihonen, Jari J; Levy, Deborah L DL; Meltzer, Herbert Y HY; Goldstein, David B DB
Publication Date: 2012-08-10

Variant appearance in text: EPB41L1: 59A>G
PubMed Link: 22863191
Variant Present in the following documents:
  • Main text
View BVdb publication page