The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Genes
Pauly, Martje G MG; Korenke, G Christoph GC; Diaw, Sokhna Haissatou SH; Grözinger, Anne A; Cazurro-Gutiérrez, Ana A; Pérez-Dueñas, Belén B; González, Victoria V; Macaya, Alfons A; Serrano Antón, Ana Teresa AT; Peterlin, Borut B; Božović, Ivana Babić IB; Maver, Aleš A; Münchau, Alexander A; Lohmann, Katja K
Publication Date: 2023-03-29
Variant appearance in text: WARS2: 346C>T; Gln116Ter