Expanding the phenotypic spectrum in neurological disorders associated with mutations in KARS gene (lysyl-tRNA synthetase) by the identification of a novel mutation - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Communication Dans Un Congrès Année : 2019

Expanding the phenotypic spectrum in neurological disorders associated with mutations in KARS gene (lysyl-tRNA synthetase) by the identification of a novel mutation

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hal-02378865 , version 1 (25-11-2019)

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  • HAL Id : hal-02378865 , version 1

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Sophie Scheidecker, Séverine Bär, Corinne Stoetzel, Véronique Geoffroy, Béatrice Lannes, et al.. Expanding the phenotypic spectrum in neurological disorders associated with mutations in KARS gene (lysyl-tRNA synthetase) by the identification of a novel mutation. 52nd European Society of Human Genetics (ESHG) Conference, Jun 2019, Gothenburg, Sweden. pp.283. ⟨hal-02378865⟩

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