The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
scientific article published on 2 December 2015
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author: Valérie Cormier-Daire, Martine Le Merrer, Josseline Kaplan, Jeanne Amiel, Didier Lacombe, Sandrine Marlin, Anne-Lise Delezoide, Marie-Line Jacquemont, Francois Cartault, Yline Capri, Judith Melki, Genevieve Baujat
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