Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: FBLN5: G90S; rs144288844
Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.
Neurology. Genetics
Kazamel, Mohamed M; Lopez, Michael A MA; Bebin, Martina M; Bowling, Kevin K; Korf, Bruce R BR; Barsh, Gregory S GS; Cooper, Gregory M GM; Hurst, Anna C E ACE; Ubogu, Eroboghene E EE
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain : A Journal Of Neurology
Auer-Grumbach, Michaela M; Weger, Martin M; Fink-Puches, Regina R; Papić, Lea L; Fröhlich, Eleonore E; Auer-Grumbach, Piet P; El Shabrawi-Caelen, Laila L; Schabhüttl, Maria M; Windpassinger, Christian C; Senderek, Jan J; Budka, Herbert H; Trajanoski, Slave S; Janecke, Andreas R AR; Haas, Anton A; Metze, Dieter D; Pieber, Thomas R TR; Guelly, Christian C