High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Journal Of Human Genetics
Hammarsjö, Anna A; Pettersson, Maria M; Chitayat, David D; Handa, Atsuhiko A; Anderlid, Britt-Marie BM; Bartocci, Marco M; Basel, Donald D; Batkovskyte, Dominyka D; Beleza-Meireles, Ana A; Conner, Peter P; Eisfeldt, Jesper J; Girisha, Katta M KM; Chung, Brian Hon-Yin BH; Horemuzova, Eva E; Hyodo, Hironobu H; Korņejeva, Liene L; Lagerstedt-Robinson, Kristina K; Lin, Angela E AE; Magnusson, Måns M; Moosa, Shahida S; Nayak, Shalini S SS; Nilsson, Daniel D; Ohashi, Hirofumi H; Ohashi-Fukuda, Naoko N; Stranneheim, Henrik H; Taylan, Fulya F; Traberg, Rasa R; Voss, Ulrika U; Wirta, Valtteri V; Nordgren, Ann A; Nishimura, Gen G; Lindstrand, Anna A; Grigelioniene, Giedre G
Publication Date: 2021-10
Variant appearance in text: APOB: 10427C>A; Ala3476Glu