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A form of muscular dystrophy associated with pathogenic variants in JAG2

Sandra Coppens, Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas‐Franco, Christine C. Bruels, Sandra Donkervoort, Lynn Pais, Katherine R. Chao, Julia K. Goodrich, Eleina England, Ben Weisburd, Vijay Ganesh, Sanna Gudmundsson, Anne O’Donnell‐Luria, Mait Nigul, Pilvi Ilves, Payam Mohassel, Teepu Siddique, Margherita Milone, Stefan Nicolau, Reza Maroofian, Henry Houlden, Michael G. Hanna, Rosaline C. M. Quinlivan, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Sabine Costagliola, Nicolas Deconinck, Hazim Kadhim, Erica L. Macke, Brendan C. Lanpher, Eric W. Klee, Anna Łusakowska, Anna Kostera‐Pruszczyk, Andreas Hahn, Bertold Schrank, Ichizo Nishino, Masashi Ogasawara, Rasha El Sherif, Tanya Stojkovic, Isabelle Nelson, Gisèle Bonne, Enzo Cohen, Anne Boland, Jean‐François Deleuze, Yao Meng, Ana Töpf, Catheline Vilain, Christina A. Pacak, Marie Rivera‐Zengotita, Carsten G. Bönnemann, Volker Straub, Penny A. Handford, Isabelle Draper, Glenn A. Walter, Peter B. Kang

2021The American Journal of Human Genetics40 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGeneticsMuscular dystrophyNotch signaling pathwayMissense mutationExome sequencingCandidate geneDystrophinFrameshift mutationMutationGeneRNA Research and SplicingRNA modifications and cancerMuscle Physiology and Disorders
A form of muscular dystrophy associated with pathogenic variants in JAG2 | Litcius