![Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome]()
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken SyndromeMorin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Brémond-Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Hérent, Didier; Nürnberg, Peter; Roméo, Bernard; Konrad, Kerstin; Mathieu-Dramard, Michèle; Oldenburg, Johannes; Bourges-Petit, Elisabeth; Shen, Yuequan; Zerres, Klaus; Ouadid-Ahidouch, Halima; Rochette, Jacques · Human Mutation · 2014