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Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R; England, Eleina M; Laricchia, Kristen M; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasús, Ana B; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G and Straub, Volker (2020). Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genetics in medicine, 22(9), pp. 1478-1488. Springer Nature 10.1038/s41436-020-0840-3
