DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
DYNC2H1 功能减弱型或视网膜为主型变异会导致非综合征性视网膜变性。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-0915-1
Vig, Anjali; Poulter, James A; Ottaviani, Daniele; Tavares, Erika; Toropova, Katerina; Tracewska, Anna Maria; Mollica, Antonio; Kang, Jasmine; Kehelwathugoda, Oshini; Paton, Tara; Maynes, Jason T; Wheway, Gabrielle; Arno, Gavin; Khan, Kamron N; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Di Scipio, Matteo; Li, Shuning; Ellingford, Jamie; Black, Graeme; Webster, Andrew; Rydzanicz, Małgorzata; Stawiński, Piotr; Płoski, Rafał; Vincent, Ajoy; Cheetham, Michael E; Inglehearn, Chris F; Roberts, Anthony; Heon, Elise