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New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

Author / Organization: Stéphanie Bauché, Alain Sureau, Damien Sternberg, John Rendu, Céline Buon, Julien Messéant, Myriam Boëx, Denis Furling, Julien Fauré, Xénia Latypova, Antoinette Bernabe Gelot, Michèle Mayer, Pierre Mary, Sandra Whalen, Emmanuel Fournier, Isabelle Cloix, Ganaelle Remerand, Fanny Laffargue, Marie-Christine Nougues, Bertrand Fontaine, Bruno Eymard, Arnaud Isapof, Laure Strochlic

File Format PDF (Portable Document Format)
Publication Year 2020
Source Host HAL Open Science (hal.science)
License / Terms Open Access / Creative Commons

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