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: 683C>G; Ser228Trp

PubMed Link: 37107582

Variant Present in the following documents:

• genes-14-00822.pdf

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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: Ser228Trp

PubMed Link: 29783990

Variant Present in the following documents:

• Main text

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Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Clinical Genetics

Burke, E A EA; Frucht, S J SJ; Thompson, K K; Wolfe, L A LA; Yokoyama, T T; Bertoni, M M; Huang, Y Y; Sincan, M M; Adams, D R DR; Taylor, R W RW; Gahl, W A WA; Toro, C C; Malicdan, M C V MCV

Publication Date: 2018-03

Variant appearance in text: WARS2: 683C>G; Ser228Trp

PubMed Link: 29120065

Variant Present in the following documents:

• Main text
• CGE-93-712.pdf

View BVdb publication page