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: 149G>A; Gly50Asp

PubMed Link: 37107582

Variant Present in the following documents:

• genes-14-00822.pdf

View BVdb publication page

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: WARS2: G50D

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder.

Movement Disorders Clinical Practice

Hübers, Annemarie A; Huppertz, Hans-Jürgen HJ; Wortmann, Saskia B SB; Kassubek, Jan J

Publication Date: 2020-01

Variant appearance in text: WARS2: 149G>A; Gly50Asp

PubMed Link: 31970218

Variant Present in the following documents:

• Main text

View BVdb publication page