Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: COL6A1: Q808H; rs140547835
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
Plos One
Valencia, C Alexander CA; Ankala, Arunkanth A; Rhodenizer, Devin D; Bhide, Shruti S; Littlejohn, Martin Robert MR; Keong, Lisa Mari LM; Rutkowski, Anne A; Sparks, Susan S; Bonnemann, Carsten C; Hegde, Madhuri M
Publication Date: 2013
Variant appearance in text: COL6A1: 2424G>T; Q808H
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
The Journal Of Molecular Diagnostics : Jmd
Valencia, C Alexander CA; Rhodenizer, Devin D; Bhide, Shruti S; Chin, Ephrem E; Littlejohn, Martin Robert MR; Keong, Lisa Mari LM; Rutkowski, Anne A; Bonnemann, Carsten C; Hegde, Madhuri M
Publication Date: 2012
Variant appearance in text: COL6A1: 2424G>T; Q808H