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IRF2BPL gene variants with dystonia: one new Chinese case report

BACKGROUND: The carriers of damaging heterozygous variants in interferon regulatory factor 2 binding protein-like (IRF2BPL), encoding a member of the IRF2BP family of transcriptional regulators, may be affected by a variety of neurological symptoms, such as neurodevelopmental regression, language an...

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Detalles Bibliográficos
Autores principales: Yang, Fei, Li, Hui, Dai, Yi, Zhang, Ran, Zhang, Jiang-tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9862514/
https://www.ncbi.nlm.nih.gov/pubmed/36670390
http://dx.doi.org/10.1186/s12883-023-03077-x