ELP4 c.1144-8381A>G

Variant ID: 11-31796560-A-G

NM_019040.3(ELP4):c.1144-8381A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PAX6 haplotypes are associated with high myopia in Han chinese.

Plos One
Jiang, Bo B; Yap, Maurice K H MK; Leung, Kim Hung KH; Ng, Po Wah PW; Fung, Wai Yan WY; Lam, Wai Wa WW; Gu, Yang-Shun YS; Yip, Shea Ping SP
Publication Date: 2011-05-12

Variant appearance in text: rs2863231
PubMed Link: 21589860
Variant Present in the following documents:
  • Main text
  • pone.0019587.pdf
View BVdb publication page



Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).

European Journal Of Human Genetics : Ejhg
Strug, Lisa J LJ; Clarke, Tara T; Chiang, Theodore T; Chien, Minchen M; Baskurt, Zeynep Z; Li, Weili W; Dorfman, Ruslan R; Bali, Bhavna B; Wirrell, Elaine E; Kugler, Steven L SL; Mandelbaum, David E DE; Wolf, Steven M SM; McGoldrick, Patricia P; Hardison, Huntley H; Novotny, Edward J EJ; Ju, Jingyue J; Greenberg, David A DA; Russo, James J JJ; Pal, Deb K DK
Publication Date: 2009-09

Variant appearance in text: rs2863231
PubMed Link: 19172991
Variant Present in the following documents:
  • Main text
View BVdb publication page