PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Human Mutation
Peeters, Manon H C A MHCA; Khan, Mubeen M; Rooijakkers, Anoek A M B AAMB; Mulders, Timo T; Haer-Wigman, Lonneke L; Boon, Camiel J F CJF; Klaver, Caroline C W CCW; van den Born, L Ingeborgh LI; Hoyng, Carel B CB; Cremers, Frans P M FPM; den Hollander, Anneke I AI; Dhaenens, Claire-Marie CM; Collin, Rob W J RWJ
Publication Date: 2021-12
Variant appearance in text: PRPH2: 938C>T; Pro313Leu
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: PRPH2: P313L; rs61748434