Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease

Clothilde Estève , Céline Roman , Cécile Deleusse , Melissa Baravalle , Karine Bertaux , Frédéric Blanc , Patrice Bourgeois , Violaine Bresson , Aline Cano , Marie-Edith Coste , Clémence Delteil , Caroline Lacoste , Marie Loosveld , André Maues de Paula , Anne-Sophie Monnier , Véronique Secq (1, 2) , Nicolas Levy , Catherine Badens , Alexandre Fabre

1 Département d’Anatomopathologie [Institut Paoli-Calmettes, Marseille]
2 CRCM - Centre de Recherche en Cancérologie de Marseille

Domaines: Génétique

Clothilde Estève, Céline Roman, Cécile Deleusse, Melissa Baravalle, Karine Bertaux, et al.. Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease. European Journal of Medical Genetics, 2021, 64 (10), pp.104294. ⟨10.1016/j.ejmg.2021.104294⟩. ⟨hal-03623403⟩