Publications:

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: 134G>T; Gly45Val

PubMed Link: 37107582

Variant Present in the following documents:

• genes-14-00822.pdf

View BVdb publication page

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

Orphanet Journal Of Rare Diseases

Vantroys, Elise E; Smet, Joél J; Vanlander, Arnaud V AV; Vergult, Sarah S; De Bruyne, Ruth R; Roels, Frank F; Stepman, Hedwig H; Roeyers, Herbert H; Menten, Björn B; Van Coster, Rudy R

Publication Date: 2018-05-21

Variant appearance in text: WARS2: Gly45Val

PubMed Link: 29783990

Variant Present in the following documents:

• Main text
• 13023_2018_Article_822.pdf

View BVdb publication page