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: 679A>G; Met227Val

PubMed Link: 37107582

Variant Present in the following documents:

• genes-14-00822.pdf

View BVdb publication page

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Frontiers In Neurology

Mastrangelo, Mario M; Galosi, Serena S; Cesario, Serena S; Renzi, Alessia A; Campea, Lucilla L; Leuzzi, Vincenzo V

Publication Date: 2022

Variant appearance in text: WARS2: 679A>G

PubMed Link: 35795805

Variant Present in the following documents:

• Main text
• fneur-13-855134.pdf

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Molecular convergence and transgenic evidence suggest a single origin of laryngeal echolocation in bats.

Iscience

Liu, Zhen Z; Chen, Peng P; Xu, Dong-Ming DM; Qi, Fei-Yan FY; Guo, Yuan-Ting YT; Liu, Qi Q; Bai, Jing J; Zhou, Xin X; Shi, Peng P

Publication Date: 2022-04-15

Variant appearance in text: WARS2: M227V

PubMed Link: 35391832

Variant Present in the following documents:

• mmc13.xlsx, sheet 1

View BVdb publication page