Publications:

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.

Neurology. Genetics

Bauché, Stéphanie S; Sureau, Alain A; Sternberg, Damien D; Rendu, John J; Buon, Céline C; Messéant, Julien J; Boëx, Myriam M; Furling, Denis D; Fauré, Julien J; Latypova, Xénia X; Gelot, Antoinette Bernabe AB; Mayer, Michèle M; Mary, Pierre P; Whalen, Sandra S; Fournier, Emmanuel E; Cloix, Isabelle I; Remerand, Ganaelle G; Laffargue, Fanny F; Nougues, Marie-Christine MC; Fontaine, Bertrand B; Eymard, Bruno B; Isapof, Arnaud A; Strochlic, Laure L

Publication Date: 2020-12

Variant appearance in text: RYR1: 4077C>A

PubMed Link: 33659639

Variant Present in the following documents:

• NG2020014647.pdf

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