ABCA4 c.66+1205A>G

Variant ID: 1-94585331-T-C

NM_000350.2(ABCA4):c.66+1205A>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted long-read sequencing identifies missing disease-causing variation.

American Journal Of Human Genetics
Miller, Danny E DE; Sulovari, Arvis A; Wang, Tianyun T; Loucks, Hailey H; Hoekzema, Kendra K; Munson, Katherine M KM; Lewis, Alexandra P AP; Fuerte, Edith P Almanza EPA; Paschal, Catherine R CR; Walsh, Tom T; Thies, Jenny J; Bennett, James T JT; Glass, Ian I; Dipple, Katrina M KM; Patterson, Karynne K; Bonkowski, Emily S ES; Nelson, Zoe Z; Squire, Audrey A; Sikes, Megan M; Beckman, Erika E; Bennett, Robin L RL; Earl, Dawn D; Lee, Winston W; Allikmets, Rando R; Perlman, Seth J SJ; Chow, Penny P; Hing, Anne V AV; Wenger, Tara L TL; Adam, Margaret P MP; Sun, Angela A; Lam, Christina C; Chang, Irene I; Zou, Xue X; Austin, Stephanie L SL; Huggins, Erin E; Safi, Alexias A; Iyengar, Apoorva K AK; Reddy, Timothy E TE; Majoros, William H WH; Allen, Andrew S AS; Crawford, Gregory E GE; Kishnani, Priya S PS; , ; King, Mary-Claire MC; Cherry, Tim T; Chong, Jessica X JX; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Mefford, Heather C HC; Doherty, Dan D; Eichler, Evan E EE
Publication Date: 2021-08-05

Variant appearance in text: rs2184339
PubMed Link: 34216551
Variant Present in the following documents:
  • Main text
View BVdb publication page