CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency - Brockmann, Sarah J.; Freischmidt, Axel; Oeckl, Patrick; Müller, Kathrin; Ponna, Srinivas K; Helferich, Anika Marie; Paone, Christoph; Reinders, Jörg; Kojer, Kerstin; Orth, Michael; Jokela, Manu; Auranen, Mari; et al. (Human molecular genetics, 2018)
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